STRA6 Antibody – Rabbit Polyclonal

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]

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.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Cellular Component: integral to membrane; membrane; plasma membrane; protein complex

Molecular Function: protein binding; receptor activity; vitamin transporter activity

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; positive regulation of JAK-STAT cascade; smooth muscle development; transport; vocal learning