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RASA1 RAS p21 protein activator (GTPase activating protein) 1

Also known as: GAP; PKWS; RASA; CMAVM; CM-AVM; RASGAP; p120GAP; p120RASGAP

Summary

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-02-21)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-02-21)

ClinGen Genome Curation Page

Genomic context

Location:
5q13.3
Sequence:
Chromosome: 5; NC_000005.10 (87268253..87391926)
Total number of exons:
25

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