RAB5C

Chr 17

RAB5C, member RAS oncogene family

Also known as: L1880, RAB5CL, RAB5L, RABL

NCBI Gene: 5878 ENSG00000108774 UniProt: P51148

RAB5C encodes a small GTPase that regulates early endocytic trafficking by cycling between inactive and active forms to recruit effectors responsible for vesicle formation, movement, and fusion with target membranes. The gene is highly constrained against loss-of-function variants (pLI 0.94, LOEUF 0.36), suggesting mutations would likely cause severe developmental phenotypes, though specific associated diseases have not yet been established in the literature.

ResearchSummary from RefSeq, UniProt

Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.36

LOEUF

DN*

Mechanism· G2P

Some data sources returned errors (1)

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