STRA6

signaling receptor and transporter of retinol STRA6

2 disorders 1 causative 1 untyped 15q24.1 gene with protein product

HGNC:30650 Monarch NCBI Gene 64220 ENSG00000137868 UniProt Q9BX79 OMIM 610745

Aliases: SLC69A1, FLJ12541.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Congenital Diaphragmatic Hernia	causative
STRA6-related syndromic microphthalmia	untyped Causal biallelic pathogenic variant	mechanism: Impaired cellular retinol uptake

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.