RASA1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human RASA1 wild-type allele is located in the vicinity of 5q13.3 and is approximately 124 kb in length. This allele, which encodes Ras GTPase-activating protein 1, plays a role in the regulation of guanidine triphosphate hydrolysis. Mutation of the gene is associated with capillary malformation-arteriovenous malformation, Parkes Weber syndrome and basal cell carcinomas.

**Synonyms:** - CM-AVM - CMAVM - Capillary Malformation-Arteriovenous Malformation Gene - DKFZp434N071 - GAP - PKWS - RAS p21 Protein Activator (GTPase Activating Protein) 1 Gene - RAS p21 Protein Activator 1 wt Allele - RASA - RASGAP - p120GAP - p120RASGAP