RAP1GDS1

Chr 4AR

Rap1 GTPase-GDP dissociation stimulator 1

Also known as: GDS1, SmgGDS

NCBI Gene: 5910 ENSG00000138698 UniProt: P52306 OMIM: 179502

The protein acts as a guanine nucleotide exchange factor for Rho family GTPases and regulates mitochondrial dynamics and calcium signaling. Mutations cause Alfadhel syndrome, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (pLI 0.93, LOEUF 0.34), indicating that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Alfadhel syndromeMIM #620655

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

0.34

LOEUF· LoF intol.

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Mechanism