UniProt Protein Function: | STRA6: 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. Defects in STRA6 are the cause of microphthalmia syndromic type 9 (MCOPS9); also called Matthew-Wood syndrome or Spear syndrome. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS9 is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe. 4 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 15q24.1 Cellular Component: plasma membrane; protein complex Biological Process: adrenal gland development; alveolus development; artery morphogenesis; blood vessel development; cognition; developmental growth; digestive tract morphogenesis; ear development; embryonic gut development; feeding behavior; female genitalia development; heart development; kidney development; learning; lung development; neuromuscular process; nose morphogenesis; positive regulation of behavior; retinoid metabolic process; smooth muscle development; vocal learning Disease: Microphthalmia, Syndromic 9 |
NCBI 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] |
UniProt Code: | Q9BX79 |
NCBI GenInfo Identifier: | 74733466 |
NCBI Gene ID: | 64220 |
NCBI Accession: | Q9BX79.1 |
UniProt Secondary Accession: | Q9BX79,Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, A8K7F1 B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, |
UniProt Related Accession: | Q9BX79 |
Molecular Weight: | 74kDa |
NCBI Full Name: | Stimulated by retinoic acid gene 6 protein homolog |
NCBI Synonym Full Names: | stimulated by retinoic acid 6 |
NCBI Official Symbol: | STRA6 |
NCBI Official Synonym Symbols: | MCOPS9; MCOPCB8; PP14296 |
NCBI Protein Information: | stimulated by retinoic acid gene 6 protein homolog |
UniProt Protein Name: | Stimulated by retinoic acid gene 6 protein homolog |
Protein Family: | Stimulated by retinoic acid gene 6 protein |
UniProt Gene Name: | STRA6 |