RBP7

Chr 1

retinol binding protein 7

Also known as: CRABP4, CRBP4, CRBPIV

NCBI Gene: 116362 ENSG00000162444 UniProt: Q96R05

The encoded protein transports retinol (vitamin A) within cells and has lower binding affinity for retinol compared to other cellular retinol-binding proteins. Mutations in this gene cause autosomal recessive retinitis pigmentosa and Leber congenital amaurosis, both inherited retinal dystrophies that can present in infancy or childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.732), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the cellular retinol-binding protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding affinity for retinol than other CRBPs. [provided by RefSeq, Aug 2016]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.73

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429