RABGAP1L

Chr 1

RAB GTPase activating protein 1 like

Also known as: HHL, TBC1D18

NCBI Gene: 9910 ENSG00000152061 UniProt: B7ZAP0

RABGAP1L encodes a protein that activates GTPases and regulates protein localization within cellular compartments including the Golgi apparatus, cilia, and endosomes. Mutations cause Warburg micro syndrome, a rare autosomal recessive disorder characterized by congenital cataracts, microcephaly, intellectual disability, and hypogonadism. The gene is highly constrained against loss-of-function variants, indicating its critical importance for normal development.

ResearchSummary from RefSeq

Enables GTPase activator activity and small GTPase binding activity. Acts upstream of or within regulation of protein localization. Located in several cellular components, including Golgi apparatus; cilium; and early endosome. [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

0.51

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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