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

external link
2.

Nesbit MA et al. (2013) Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

external link
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.

external link
4.

Holzmann K et al. (1998) A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17.

external link
5.

Orphanet article

Orphanet ID 320542 external link
6.

NCBI article

NCBI 1175 external link
7.

OMIM.ORG article

Omim 602242 external link
8.

Wikipedia article

Wikipedia EN (AP2S1) external link
Update: Aug. 14, 2020
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