RecName: Full=Centrosomal protein of 83 kDa; Short=Cep83; AltName: Ful - Protein

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The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage. [Elife. 2022]
The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage.
Mansour F, Hinze C, Telugu NS, Kresoja J, Shaheed IB, Mosimann C, Diecke S, Schmidt-Ott KM. Elife. 2022 Oct 12; 11. Epub 2022 Oct 12.
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency. [Am J Med Genet A. 2021]
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
Veldman BCF, Kuper WFE, Lilien M, Schuurs-Hoeijmakers JHM, Marcelis C, Phan M, Hettinga Y, Talsma HE, van Hasselt PM, Haijes HA. Am J Med Genet A. 2021 Jul; 185(7):2204-2210. Epub 2021 May 3.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. [Cell. 2021]
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, et al. Cell. 2021 May 27; 184(11):3022-3040.e28. Epub 2021 May 6.

RefSeq genomic sequence
See the genomic reference sequence for the CEP83 gene (NG_051825.2).
RefSeq protein isoforms
See 38 reference sequence protein isoforms for the CEP83 gene.

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Q9Y592 [Domain Mapping of Disease Mut...]
Q9Y592
Domain Mapping of Disease Mutations
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Protein