Gene: STRA6

Alternate names for this Gene: MCOPCB8|MCOPS9|PP14296

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q24.1

Description of this Gene: signaling receptor and transporter of retinol STRA6

Type of Gene: protein-coding

rs144691445 in STRA6 gene and ANOPHTHALMIA AND PULMONARY HYPOPLASIA PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

PMID 21901792 2011 The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9).

PMID 17273977 2007 Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

PMID 21368206 2011 Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses.

PMID 17503335 2007 Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

rs351237 in STRA6 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.