gene: STRA6
| id | 64220 |
|---|---|
| symbol | STRA6 |
| organism | Homo sapiens |
| full name | signaling receptor and transporter of retinol STRA6 |
| summary | The 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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