" /> ATP2C1 wt Allele - CISMeF





Preferred Label : ATP2C1 wt Allele;

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

NCIt 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.;

GenBank Accession Number : AF181120;

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29/07/2025


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