ARL8B

Chr 3

ARF like GTPase 8B

Also known as: ARL10C, Gie1

NCBI Gene: 55207 ENSG00000134108 UniProt: Q9NVJ2

ARL8B encodes a small GTPase that regulates lysosomal positioning, transport, and fusion, playing critical roles in immune cell cytotoxicity, antigen presentation, and synaptic function. Mutations cause autosomal recessive immunodeficiency with defective cytolytic granule exocytosis and impaired natural killer cell function. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.649), suggesting some tolerance to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

Enables G protein activity; guanyl ribonucleotide binding activity; and tubulin binding activity. Involved in several processes, including antigen processing and presentation following phagocytosis; cytosolic transport; and vesicle fusion. Located in cytolytic granule membrane; midbody; and spindle midzone. Is active in early endosome membrane and lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

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

0.65

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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