Aliases for STRA6 Gene
External Ids for STRA6 Gene
Previous GeneCards Identifiers for STRA6 Gene
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]
GeneCards Summary for STRA6 Gene
STRA6 (Stimulated By Retinoic Acid 6) is a Protein Coding gene. Diseases associated with STRA6 include microphthalmia, syndromic 9 and colobomatous microphthalmia. Among its related pathways are Infectious disease and Diseases associated with visual transduction. GO annotations related to this gene include receptor activity and vitamin transporter activity.
UniProtKB/Swiss-Prot for STRA6 Gene
May act as a high-affinity cell-surface receptor for the complex retinol-retinol binding protein (RBP/RBP4). Acts by removing retinol from RBP/RBP4 and transports it across the plasma membrane, where it can be metabolized. This mechanism does not depend on endocytosis. Binds to RBP/RBP4 with high affinity. Increases cellular retinol uptake from the retinol-RBP complex (By similarity).