RAB28

Chr 4AR

RAB28, member RAS oncogene family

Also known as: CORD18

NCBI Gene: 9364 ENSG00000157869 UniProt: P51157 OMIM: 612994

This protein is a small GTPase that regulates intracellular membrane trafficking and is specifically required for shedding and phagocytosis of cone cell outer segment discs in the retina. Biallelic mutations cause cone-rod dystrophy 18, an inherited retinal dystrophy primarily affecting the macula and color vision with autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cone-rod dystrophy 18MIM #615374

Clinical highlights

Gene-disease validity (ClinGen)

RAB28-related retinopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.76

LOEUF

LOF

Mechanism· G2P