AGTR2 mutations in X-linked mental retardation.

Article Details

Citation

Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK

AGTR2 mutations in X-linked mental retardation.

Science. 2002 Jun 28;296(5577):2401-3.

PubMed ID
12089445 [ View in PubMed
]
Abstract

Two angiotensin II (Ang II)-specific receptors, AGTR1 and AGTR2, are expressed in the mammalian brain. Ang II actions on blood pressure regulation, water electrolyte balance, and hormone secretion are primarily mediated by AGTR1. The function of AGTR2 remains unclear. Here, we show that expression of the AGTR2 gene was absent in a female patient with mental retardation (MR) who had a balanced X;7 chromosomal translocation. Additionally, 8 of 590 unrelated male patients with MR were found to have sequence changes in the AGTR2 gene, including one frameshift and three missense mutations. These findings indicate a role for AGTR2 in brain development and cognitive function.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Type-2 angiotensin II receptorP50052Details