CAVIN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CAVIN1 wild-type allele is located in the vicinity of 17q21.2 and is approximately 21 kb in length. This allele, which encodes caveolae-associated protein 1, plays a role in the regulation of rRNA transcription and the formation of caveolae. Mutations in the gene are associated with congenital generalized (Berardinelli-Seip) lipodystrophy 4.

**Synonyms:** - CAVIN - CGL4 - Caveolae Associated Protein 1 wt Allele - Cavin-1 Gene - Congenital Generalized Lipodystrophy 4 Gene - FKSG13 - PTRF - RNA Polymerase I and Transcript Release Factor Gene - TTF-I Interacting Peptide 12 Gene