RBP4

Chr 10ADAR

retinol binding protein 4

Also known as: MCOPCB10, RDCCAS

NCBI Gene: 5950 ENSG00000138207 UniProt: P02753 OMIM: 180250

This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microphthalmia/coloboma 10MIM #616428

Retinal dystrophy, iris coloboma, and comedogenic acne syndromeMIM #615147

Clinical highlights

Gene-disease validity (ClinGen)

progressive retinal dystrophy due to retinol transport defect · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

144

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.59

LOEUF

Multiple*

Mechanism· G2P