rs736118
This variant is located in the STRA6 gene.
▶ClinVar annotation
not specified; Matthew-Wood syndrome; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson diseaseAssociationN=374Srinivasan BS et al.(2009)· Human Mutation
This whole genome association study of 374 Caucasians identified a reproducibly associated axon guidance pathway for Parkinson disease, with rs3770208 (EPHA4, log OR=0.5, p=0.0002) and rs9867325 (EPHA7, log OR=0.61, p=8.65e-05) showing the strongest SNP-level associations. Pathway-level analysis with controlled multiple testing revealed ubiquitin-mediated proteolysis (AUC=0.66, p=0.01), T-cell receptor signaling (AUC=0.59, p=0.04), and axon guidance (AUC=0.60, p=0.05) pathways predictive of PD susceptibility. The axon guidance pathway replicated in an independent PD study.
About STRA6
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]
View all STRA6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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