ARL4C

Chr 2

ARF like GTPase 4C

Also known as: ARL7, LAK

NCBI Gene: 10123 ENSG00000188042 UniProt: P56559 OMIM: 604787

ADP-ribosylation factor-like 4C encodes a small GTP-binding protein that regulates intracellular vesicular transport between endosomes and the plasma membrane, and is involved in cholesterol transport pathways. The gene shows high constraint against loss-of-function variants (LOEUF 0.632), but no human disease associations have been established for ARL4C mutations. Additional research is needed to determine if variants in this gene cause pediatric neurological conditions.

OMIM ResearchSummary from RefSeq, UniProt

ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]

OMIM 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

0.63

LOEUF

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Mechanism