RAB11A

Chr 15

RAB11A, member RAS oncogene family

Also known as: YL8

NCBI Gene: 8766 ENSG00000103769 UniProt: P62491

The protein is a small GTPase that regulates both constitutive and regulated secretory pathways and protein transport at the cell membrane. Mutations cause autosomal dominant neurodevelopmental disorder with intellectual disability, seizures, and brain malformations through loss of function mechanisms. The high pLI score (0.99) and low LOEUF score (0.21) indicate the gene is highly intolerant to loss-of-function variants.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder with motor features · ADModerateconsider for supplementary testing

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.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

0.21

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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