Gene Symbol | AP2S1 |
Entrez Gene ID | 1175 |
Full Name | adaptor related protein complex 2 sigma 1 subunit |
Synonyms | AP17,CLAPS2,FBH3,FBHOk,HHC3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. |
Disorder MIM: | |
Disorder Html: | Hypocalciuric hypercalcemia, type III, 600740 (3) |