AP2S1 | definition of AP2S1 by Medical dictionary
AP2S1 A gene on chromosome 19q13.2-q13.3 that encodes the small subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which is involved in protein transport via clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin.
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References in periodicals archive
Moreover, mutations of AP2S1 were identified in patients with FHH type 3, a gene that encodes the adaptor protein 2 [sigma]-subunit that is involved in CaSR endocytosis (30).
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.