" /> AP2S1 wt Allele - CISMeF





Preferred Label : AP2S1 wt Allele;

NCIt synonyms : Adaptor Related Protein Complex 2 Subunit Sigma 1 wt Allele; HHC3; Clathrin-Associated/Assembly/Adaptor Protein, Small 2 (17kD) Gene; Clathrin Adaptor Protein AP17 Gene; AP17; CLAPS2; Hypocalciuric Hypercalcemia 3 (Oklahoma Type) Gene; Clathrin Adaptor Complex AP2, Sigma Subunit Gene; Adaptor-Related Protein Complex 2, Sigma-1 Subunit Gene; Adaptor Related Protein Complex 2 Sigma 1 Subunit Gene; FBH3; Clathrin-Associated/Assembly/Adaptor Protein, Small 2, 17-kD Gene; FBHOk; Sigma-2 Gene;

NCIt definition : Human AP2S1 wild-type allele is located in the vicinity of 19q13.32 and is approximately 13 kb in length. This allele, which encodes AP-2 complex subunit sigma protein, is involved in coated vesicle transport. Mutations in the gene are associated with hypocalciuric hypercalcemia 3.;

GenBank Accession Number : AJ010148;

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30/07/2025


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