Adaptor-related protein complex 2, sigma 1 subunit
The protein encoded by the AP2S1 gene belongs to the clathrin-associated adaptor complexes that is involves in calcium sensing receptor recycling through coated pits. Mutations cause autosomal dominant familial hypocalciuric hypercalcemia type 3.
Genetests:
Related Diseases:
References:
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McMurtry CT et al. (1992) Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia.
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2. |
Nesbit MA et al. (2013) Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
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3. |
Winterpacht A et al. (1996) Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3.
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4. |
Holzmann K et al. (1998) A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17.
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5. |
Orphanet article
Orphanet ID 320542
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6. |
NCBI article
NCBI 1175
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7. |
OMIM.ORG article
Omim 602242
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8. |
Wikipedia article
Wikipedia EN (AP2S1)
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Update: Aug. 14, 2020