Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Familial hypocalciuric hypercalcemia type 3
AP2S1
Hyperparathyroidism
AP2S1
CASR
CDC73
Familial Isolated Hyperparathyroidism
GCM2
GNA11
Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
Kenny-Caffey syndrome
TBCE
PTH

References:

1.

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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Update: Sept. 26, 2018