Gap junction alpha-1 protein

Details

Name
Gap junction alpha-1 protein
Kind
protein
Synonyms
  • Connexin-43
  • Cx43
  • Gap junction 43 kDa heart protein
  • GJAL
Gene Name
GJA1
UniProtKB Entry
P17302Swiss-Prot
Organism
Humans
NCBI Taxonomy ID
9606
Amino acid sequence
>lcl|BSEQ0010767|Gap junction alpha-1 protein
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG
CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG
VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS
LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN
YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD
QRPSSRASSRASSRPRPDDLEI
Number of residues
382
Molecular Weight
43008.005
Theoretical pI
8.98
GO Classification
Functions
alpha-tubulin binding / beta-catenin binding / beta-tubulin binding / efflux transmembrane transporter activity / gap junction hemi-channel activity / glutathione transmembrane transporter activity / monoatomic ion transmembrane transporter activity / protein tyrosine kinase binding / scaffold protein binding / signaling receptor binding / tubulin binding
Processes
adult heart development / atrial ventricular junction remodeling / blood vessel morphogenesis / bone development / bone remodeling / cardiac conduction system development / cell communication by chemical coupling / cellular response to amyloid-beta / cellular response to pH / columnar/cuboidal epithelial cell maturation / embryonic digit morphogenesis / establishment of mitotic spindle orientation / export across plasma membrane / glutamate secretion / heart looping / in utero embryonic development / lens development in camera-type eye / maintenance of blood-brain barrier / male gonad development / microtubule-based transport / milk ejection reflex / monoatomic ion transmembrane transport / negative regulation of gene expression / negative regulation of gonadotropin secretion / negative regulation of trophoblast cell migration / neuroblast migration / neuron migration / osteoblast differentiation / positive regulation of canonical NF-kappaB signal transduction / positive regulation of cold-induced thermogenesis / positive regulation of gene expression / positive regulation of mesodermal cell differentiation / positive regulation of morphogenesis of an epithelium / positive regulation of stem cell proliferation / positive regulation of striated muscle tissue development / positive regulation of vascular associated smooth muscle cell proliferation / protein localization / regulation of atrial cardiac muscle cell membrane depolarization / regulation of bone mineralization / regulation of bone remodeling / regulation of ventricular cardiac muscle cell membrane depolarization / regulation of ventricular cardiac muscle cell membrane repolarization / skeletal muscle tissue regeneration / spermatogenesis / T cell proliferation / xenobiotic transport
Components
apical plasma membrane / cell junction / cell-cell contact zone / connexin complex / contractile muscle fiber / cytoplasm / intermediate filament / intracellular membrane-bounded organelle / lateral plasma membrane / nucleoplasm / nucleus / tight junction
General Function
Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity)
Specific Function
alpha-tubulin binding
Pfam Domain Function
Signal Regions
Not Available
Transmembrane Regions
24-44 77-97 156-176 208-228
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0010768|Gap junction alpha-1 protein (GJA1)
ATGGGTGACTGGAGCGCCTTAGGCAAACTCCTTGACAAGGTTCAAGCCTACTCAACTGCT
GGAGGGAAGGTGTGGCTGTCAGTACTTTTCATTTTCCGAATCCTGCTGCTGGGGACAGCG
GTTGAGTCAGCCTGGGGAGATGAGCAGTCTGCCTTTCGTTGTAACACTCAGCAACCTGGT
TGTGAAAATGTCTGCTATGACAAGTCTTTCCCAATCTCTCATGTGCGCTTCTGGGTCCTG
CAGATCATATTTGTGTCTGTACCCACACTCTTGTACCTGGCTCATGTGTTCTATGTGATG
CGAAAGGAAGAGAAACTGAACAAGAAAGAGGAAGAACTCAAGGTTGCCCAAACTGATGGT
GTCAATGTGGACATGCACTTGAAGCAGATTGAGATAAAGAAGTTCAAGTACGGTATTGAA
GAGCATGGTAAGGTGAAAATGCGAGGGGGGTTGCTGCGAACCTACATCATCAGTATCCTC
TTCAAGTCTATCTTTGAGGTGGCCTTCTTGCTGATCCAGTGGTACATCTATGGATTCAGC
TTGAGTGCTGTTTACACTTGCAAAAGAGATCCCTGCCCACATCAGGTGGACTGTTTCCTC
TCTCGCCCCACGGAGAAAACCATCTTCATCATCTTCATGCTGGTGGTGTCCTTGGTGTCC
CTGGCCTTGAATATCATTGAACTCTTCTATGTTTTCTTCAAGGGCGTTAAGGATCGGGTT
AAGGGAAAGAGCGACCCTTACCATGCGACCAGTGGTGCGCTGAGCCCTGCCAAAGACTGT
GGGTCTCAAAAATATGCTTATTTCAATGGCTGCTCCTCACCAACCGCTCCCCTCTCGCCT
ATGTCTCCTCCTGGGTACAAGCTGGTTACTGGCGACAGAAACAATTCTTCTTGCCGCAAT
TACAACAAGCAAGCAAGTGAGCAAAACTGGGCTAATTACAGTGCAGAACAAAATCGAATG
GGGCAGGCGGGAAGCACCATCTCTAACTCCCATGCACAGCCTTTTGATTTCCCCGATGAT
AACCAGAATTCTAAAAAACTAGCTGCTGGACATGAATTACAGCCACTAGCCATTGTGGAC
CAGCGACCTTCAAGCAGAGCCAGCAGTCGTGCCAGCAGCAGACCTCGGCCTGATGACCTG
GAGATCTAG
Chromosome Location
6
Locus
6q22.31
External Identifiers
ResourceLink
UniProtKB IDP17302
UniProtKB Entry NameCXA1_HUMAN
GenBank Protein ID29917
GenBank Gene IDX52947
GeneCard IDGJA1
GenAtlas IDGJA1
HGNC IDHGNC:4274
PDB ID(s)2LL2, 7F92, 7F93, 7F94, 7XQ9, 7XQB, 7XQD, 7XQF, 7XQG, 7XQH, 7XQI, 7XQJ, 7Z1T, 7Z22, 7Z23
KEGG IDhsa:2697
NCBI Gene ID2697
General References
  1. Fishman GI, Spray DC, Leinwand LA: Molecular characterization and functional expression of the human cardiac gap junction channel. J Cell Biol. 1990 Aug;111(2):589-98. [Article]
  2. Fishman GI, Eddy RL, Shows TB, Rosenthal L, Leinwand LA: The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. Genomics. 1991 May;10(1):250-6. [Article]
  3. Haefliger JA, Goy JJ, Waeber G: Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes. Eur Heart J. 1999 Dec;20(24):1843. [Article]
  4. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
  5. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [Article]
  6. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  7. Toyofuku T, Yabuki M, Otsu K, Kuzuya T, Hori M, Tada M: Intercellular calcium signaling via gap junction in connexin-43-transfected cells. J Biol Chem. 1998 Jan 16;273(3):1519-28. [Article]
  8. Gellhaus A, Dong X, Propson S, Maass K, Klein-Hitpass L, Kibschull M, Traub O, Willecke K, Perbal B, Lye SJ, Winterhager E: Connexin43 interacts with NOV: a possible mechanism for negative regulation of cell growth in choriocarcinoma cells. J Biol Chem. 2004 Aug 27;279(35):36931-42. Epub 2004 Jun 4. [Article]
  9. Fu CT, Bechberger JF, Ozog MA, Perbal B, Naus CC: CCN3 (NOV) interacts with connexin43 in C6 glioma cells: possible mechanism of connexin-mediated growth suppression. J Biol Chem. 2004 Aug 27;279(35):36943-50. Epub 2004 Jun 21. [Article]
  10. Doble BW, Dang X, Ping P, Fandrich RR, Nickel BE, Jin Y, Cattini PA, Kardami E: Phosphorylation of serine 262 in the gap junction protein connexin-43 regulates DNA synthesis in cell-cell contact forming cardiomyocytes. J Cell Sci. 2004 Jan 26;117(Pt 3):507-14. [Article]
  11. Saffitz JE, Laing JG, Yamada KA: Connexin expression and turnover : implications for cardiac excitability. Circ Res. 2000 Apr 14;86(7):723-8. [Article]
  12. Gebbia M, Towbin JA, Casey B: Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation. 1996 Oct 15;94(8):1909-12. [Article]
  13. Penman Splitt M, Tsai MY, Burn J, Goodship JA: Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. Heart. 1997 Apr;77(4):369-70. [Article]
  14. Toth T, Hajdu J, Marton T, Nagy B, Papp Z: connexin43 gene mutations and heterotaxy. Circulation. 1998 Jan 6-13;97(1):117-8. [Article]
  15. Liu XZ, Xia XJ, Adams J, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE: Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet. 2001 Dec 1;10(25):2945-51. [Article]
  16. Cooper CD, Lampe PD: Casein kinase 1 regulates connexin-43 gap junction assembly. J Biol Chem. 2002 Nov 22;277(47):44962-8. Epub 2002 Sep 20. [Article]
  17. Akiyama M, Ishida N, Ogawa T, Yogo K, Takeya T: Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150. Biochem Biophys Res Commun. 2005 Oct 7;335(4):1264-71. [Article]
  18. Arnold JM, Phipps MW, Chen J, Phipps J: Cellular sublocalization of Cx43 and the establishment of functional coupling in IMR-32 neuroblastoma cells. Mol Carcinog. 2005 Mar;42(3):159-69. [Article]
  19. Richardson RJ, Joss S, Tomkin S, Ahmed M, Sheridan E, Dixon MJ: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. J Med Genet. 2006 Jul;43(7):e37. [Article]
  20. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb;72(2):408-18. Epub 2002 Nov 27. [Article]
  21. Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. Sci Signal. 2011 Mar 15;4(164):rs3. doi: 10.1126/scisignal.2001570. [Article]
  22. Kjenseth A, Fykerud TA, Sirnes S, Bruun J, Yohannes Z, Kolberg M, Omori Y, Rivedal E, Leithe E: The gap junction channel protein connexin 43 is covalently modified and regulated by SUMOylation. J Biol Chem. 2012 May 4;287(19):15851-61. doi: 10.1074/jbc.M111.281832. Epub 2012 Mar 12. [Article]
  23. Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH: Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med. 1995 May 18;332(20):1323-9. [Article]
  24. Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH: Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res. 2001 Aug 8;479(1-2):173-86. [Article]
  25. Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N: Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A. 2004 Jun 1;127A(2):152-7. [Article]
  26. Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B: A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. Hum Mutat. 2004 Mar;23(3):286. [Article]
  27. Richardson R, Donnai D, Meire F, Dixon MJ: Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet. 2004 Jan;41(1):60-7. [Article]
  28. Vitiello C, D'Adamo P, Gentile F, Vingolo EM, Gasparini P, Banfi S: A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. Am J Med Genet A. 2005 Feb 15;133A(1):58-60. [Article]
  29. Honkaniemi J, Kalkkila JP, Koivisto P, Kahara V, Latvala T, Simola K: Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia. Am J Med Genet A. 2005 Nov 15;139(1):48-9. [Article]
  30. Vasconcellos JP, Melo MB, Schimiti RB, Bressanim NC, Costa FF, Costa VP: A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. Arch Ophthalmol. 2005 Oct;123(10):1422-6. [Article]
  31. Chen P, Xie LJ, Huang GY, Zhao XQ, Chang C: Mutations of connexin43 in fetuses with congenital heart malformations. Chin Med J (Engl). 2005 Jun 20;118(12):971-6. [Article]
  32. Kellermayer R, Keller M, Ratajczak P, Richardson E, Harangi F, Merei E, Melegh B, Kosztolanyi G, Richard G: Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. Eur J Dermatol. 2005 Mar-Apr;15(2):75-9. [Article]
  33. Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP: Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. [Article]
  34. Wiest T, Herrmann O, Stogbauer F, Grasshoff U, Enders H, Koch MJ, Grond-Ginsbach C, Schwaninger M: Clinical and genetic variability of oculodentodigital dysplasia. Clin Genet. 2006 Jul;70(1):71-2. [Article]
  35. Kelly SC, Ratajczak P, Keller M, Purcell SM, Griffin T, Richard G: A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. Eur J Dermatol. 2006 May-Jun;16(3):241-5. [Article]
  36. van Es RJ, Wittebol-Post D, Beemer FA: Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg. 2007 Sep;36(9):858-60. Epub 2007 May 16. [Article]
  37. de la Parra DR, Zenteno JC: A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. Ophthalmic Genet. 2007 Dec;28(4):198-202. [Article]
  38. Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW: GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 2009 May;30(5):724-33. doi: 10.1002/humu.20958. [Article]
  39. Gabriel LA, Sachdeva R, Marcotty A, Rockwood EJ, Traboulsi EI: Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. Arch Ophthalmol. 2011 Jun;129(6):781-4. doi: 10.1001/archophthalmol.2011.113. [Article]
  40. Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S: A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. Clin Genet. 2013 Oct;84(4):378-81. doi: 10.1111/cge.12158. Epub 2013 Apr 26. [Article]
  41. Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ: A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013. [Article]
  42. Jamsheer A, Sowinska-Seidler A, Socha M, Stembalska A, Kiraly-Borri C, Latos-Bielenska A: Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum. Gene. 2014 Apr 10;539(1):157-61. doi: 10.1016/j.gene.2014.01.066. Epub 2014 Feb 6. [Article]

Associated Data

Drug Relations
DrugDrug groupPharmacological action?TypeActionsDetails
Carvedilolapproved, investigationalunknowntargetotherDetails
Adenosineapproved, investigationalunknowntransportersubstrateDetails
Caprylic alcoholinvestigationalyestargetinhibitorDetails