GENETIC ENCYCLOPEDIA
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gene: STRA6

id64220
symbolSTRA6
organismHomo sapiens
full namesignaling receptor and transporter of retinol STRA6
summaryThe protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
variant-disease

NM_022369.4(STRA6):c.1931C>T (p.Thr644Met) AND Microphthalmia syndromic 9

NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs) AND Microphthalmia syndromic 9

NM_022369.4(STRA6):c.1964G>A (p.Arg655His) AND Microphthalmia syndromic 9

NM_022369.4(STRA6):c.366C>T (p.Asp122=) AND Syndromic Microphthalmia, Recessive

NM_001142617.2(STRA6):c.-15-528A>G AND Syndromic Microphthalmia, Recessive

... 138 more


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