ARL17B

Chr 17

ARF like GTPase 17B

Also known as: ARL17

NCBI Gene: 100506084 ENSG00000228696 UniProt: I3L3L1

ARL17B encodes a small GTP-binding protein that cycles between GDP-bound and GTP-bound forms and is predicted to function in intracellular protein transport at the Golgi apparatus. The gene shows low constraint to loss-of-function variation (pLI 0.34, LOEUF 1.84), but no established disease associations or inheritance patterns have been reported for this gene. Clinical significance of ARL17B variants in pediatric neurological conditions remains unclear.

ResearchSummary from RefSeq, UniProt

Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

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)

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P/LP submissions

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P/LP missense

1.83

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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