Gene Symbol | STRA6 |
Entrez Gene ID | 64220 |
Full Name | stimulated by retinoic acid 6 |
Synonyms | MCOPCB8,MCOPS9,PP14296 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Microphthalmia, syndromic 9, 601186 (3); Microphthalmia, isolated, with coloboma 8, 601186 (3) |