XB-GENEPAGE-999485
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ap2s1
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adaptor related protein complex 2 subunit sigma 1
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LOC108698502
(
Nomenclature history )
???displayGene.geneFunction???
Clathrin adaptor complex, small subunit
AI Protein Function
:
ap2s1 encodes the sigma subunit of adaptor protein complex 2, an adaptor protein involved in clathrin‑mediated endocytosis and cargo selection at plasma‑membrane coated pits; the protein is cytoplasmic...[+]
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Diseases:
Disease Ontology:
familial hypocalciuric hypercalcemia 3
MIM:
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3
External Links:
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