RAB9B

Chr X

RAB9B, member RAS oncogene family

Also known as: RAB9L, Rab-9L

NCBI Gene: 51209 ENSG00000123570 UniProt: Q9NP90

RAB9B encodes a small GTPase that regulates intracellular membrane trafficking, specifically controlling transport of proteins between endosomes and the trans-Golgi network by cycling between inactive GDP-bound and active GTP-bound forms. Mutations cause autosomal dominant neurological disease through a predicted gain-of-function mechanism. The protein uses NDE1/NDEL1 as an effector to interact with the dynein motor complex for retrograde trafficking of late endosomes to the trans-Golgi network.

ResearchSummary from RefSeq, UniProt, Mechanism

This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010]

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

0.68

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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