RecName: Full=AP-2 complex subunit sigma; AltName: Full=Adaptor protei - Protein

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N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice. [JBMR Plus. 2017]
N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice.
Gorvin CM, Rogers A, Stewart M, Paudyal A, Hough TA, Teboul L, Wells S, Brown SD, Cox RD, Thakker RV. JBMR Plus. 2017 May 2; 1(1):3-15.
AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity. [Cell Rep. 2018]
AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity.
Gorvin CM, Rogers A, Hastoy B, Tarasov AI, Frost M, Sposini S, Inoue A, Whyte MP, Rorsman P, Hanyaloglu AC, et al. Cell Rep. 2018 Jan 23; 22(4):1054-1066. Epub 2018 Jan 28.
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations. [N Engl J Med. 2016]
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.
Howles SA, Hannan FM, Babinsky VN, Rogers A, Gorvin CM, Rust N, Richardson T, McKenna MJ, Nesbit MA, Thakker RV. N Engl J Med. 2016 Apr 7; 374(14):1396-1398.

RefSeq genomic sequence
See the genomic reference sequence for the AP2S1 gene (NG_033136.1).
RefSeq protein isoforms
See 9 reference sequence protein isoforms for the AP2S1 gene.

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P53680 [Domain Mapping of Disease Mut...]
P53680
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
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reagents
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RecName: Full=AP-2 complex subunit sigma; AltName: Full=Adaptor protein complex ...
RecName: Full=AP-2 complex subunit sigma; AltName: Full=Adaptor protein complex AP-2 subunit sigma; AltName: Full=Adaptor-related protein complex 2 subunit sigma; AltName: Full=Clathrin assembly protein 2 sigma small chain; AltName: Full=Clathrin coat assembly protein AP17; AltName: Full=Clathrin coat-associated protein AP17; AltName: Full=HA2 17 kDa subunit; AltName: Full=Plasma membrane adaptor AP-2 17 kDa protein; AltName: Full=Sigma2-adaptin
gi|51338780|sp|P53680.2|AP2S1_HUMAN

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ClinVar for Gene (Select 79925) (264)
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