Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus.
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Bailin T, Lee ST, Spritz RA
Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus.
J Invest Dermatol. 1996 Jan;106(1):24-7. doi: 10.1111/1523-1747.ep12326976.
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- 8592076 [ View in PubMed]
- Abstract
We have determined the DNA sequence and genomic organization of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. D12S53E encodes a melanosomal matrix protein whose expression is closely correlated with cellular melanin content and which is a frequent melanoma tumor antigen recognized by cytotoxic T lymphocytes. D12S53E is a likely candidate gene for some cases of human oculocutaneous albinism not associated with known albinism loci.