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The official name of this gene is “stimulated by retinoic acid 6.”
STRA6 is the gene's official symbol. The STRA6 gene is also known by other names, listed below.
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]
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.
The disease is caused by mutations affecting the gene represented in this entry.
Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe.
|||601186 (http://omim.org/entry/601186)||MICROPHTHALMIA, SYNDROMIC 9|
|610745 (http://omim.org/entry/610745)||STIMULATED BY RETINOIC ACID 6|
Cytogenetic Location: 15q24.1
Molecular Location on chromosome 15: base pairs 74,471,801 to 74,502,045
The STRA6 gene is located on the long (q) arm of chromosome 15 at position 24.1.
More precisely, the STRA6 gene is located from base pair 74,471,801 to base pair 74,502,045 on chromosome 15.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about STRA6 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; cell membrane ; endocytosis ; gene ; isoforms ; metabolism ; plasma membrane ; protein ; receptor ; transcript
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.