adaptor-related protein complex 1, sigma 1 subunit, isoform CRA_a [Hom - Protein

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AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. [Hum Genet. 2020]
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
Klee KMC, Janecke AR, Civan HA, Rosipal Š, Heinz-Erian P, Huber LA, Müller T, Vogel GF. Hum Genet. 2020 Oct; 139(10):1247-1259. Epub 2020 Apr 18.
MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features. [Metab Brain Dis. 2018]
MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
Incecik F, Bisgin A, Yılmaz M. Metab Brain Dis. 2018 Dec; 33(6):2065-2068. Epub 2018 Sep 23.
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. [Brain. 2013]
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, et al. Brain. 2013 Mar; 136(Pt 3):872-81. Epub 2013 Feb 18.

RefSeq genomic sequence
See the genomic reference sequence for the AP1S1 gene (NG_033082.2).
RefSeq protein
See the reference protein sequence for AP-1 complex subunit sigma-1A (NP_001274.1).

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