ATP2C1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ATP2C1 wild-type allele is located in the vicinity of 3q22.1 and is approximately 166 kb in length. This allele, which encodes calcium-transporting ATPase type 2C member 1 protein, plays a role in the transport of ions into the Golgi to regulate the trafficking of newly synthesized proteins via the secretory pathway. Mutation of the gene are associated with familial benign pemphigus.

**Synonyms:** - ATP2C1A - ATPase Secretory Pathway Ca2+ Transporting 1 wt Allele - ATPase, Ca(2+)-Sequestering Gene - ATPase, Ca(2+)-Transporting, Type 2c, Member 1 Gene - ATPase, Ca++ Transporting, Type 2C, Member 1 Gene - BCPM - Benign Chronic Pemphigus (Hailey-Hailey Disease) Gene - HHD - HUSSY-28 - KIAA1347 - PMR1 - PMR1, Rat, Homolog of Gene - SPCA1 - Secretory Pathway Ca(2+) ATPase 1 Gene - Secretory Pathway Ca2+/Mn2+ ATPase 1 Gene - hSPCA1