AGAP1

Chr 2

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

Also known as: AGAP-1, CENTG2, GGAP1, cnt-g2

NCBI Gene: 116987 ENSG00000157985 UniProt: Q9UPQ3

This gene encodes a GTPase-activating protein that regulates ARF1 and ARF5, and directly controls adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and thin corpus callosum. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.23), indicating that biallelic mutations are required for disease manifestation.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

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

0.23

LOEUF· LoF intol.

LOF

Mechanism· predicted

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