CAVIN1 wt Allele

Preferred Label : CAVIN1 wt Allele;

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

NCIt 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.;

GenBank Accession Number : AF000421;

Détails

Origin ID

C215343;

OMIM relation
- Caveolae-associated protein 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.2 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- RNA Binding [NCIt concept]
- Transcription Termination [NCIt concept]

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