ARFRP1

Chr 20

ARF related protein 1

Also known as: ARL18, ARP, Arp1

NCBI Gene: 10139 ENSG00000101246 UniProt: Q13795

The protein is a trans-Golgi-associated GTPase that regulates protein sorting and controls targeting of ARL1 and its effector to the trans-Golgi, and is required for lipidation of chylomicrons in the intestine and VLDL in the liver. Mutations cause autosomal recessive perioral dermatitis with intestinal lipodystrophy. The gene shows moderate constraint against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

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

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P/LP missense

0.64

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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