RecName: Full=Keratin, type II cuticular Hb3; AltName: Full=Hair kerat - Protein

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Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. [J Med Genet. 2017]
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.
Shah K, Ansar M, Mughal ZU, Khan FS, Ahmad W, Ferrara TM, Spritz RA. J Med Genet. 2017 Mar; 54(3):186-189. Epub 2016 Dec 13.
The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. [J Biol Chem. 2001]
The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins.
Langbein L, Rogers MA, Winter H, Praetzel S, Schweizer J. J Biol Chem. 2001 Sep 14; 276(37):35123-32. Epub 2001 Jul 9.
Novel KRT83 and KRT86 mutations associated with monilethrix. [Exp Dermatol. 2015]
Novel KRT83 and KRT86 mutations associated with monilethrix.
van Steensel M, Vreeburg M, Urbina MT, López P, Morice-Picard F, van Geel M. Exp Dermatol. 2015 Mar; 24(3):222-4.

RefSeq genomic sequence
See the genomic reference sequence for the KRT83 gene (NG_008352.1).
RefSeq protein
See the reference protein sequence for keratin, type II cuticular Hb3 (NP_002273.3).

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P78385 [Domain Mapping of Disease Mut...]
P78385
Domain Mapping of Disease Mutations
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RecName: Full=Keratin, type II cuticular Hb3; AltName: Full=Hair keratin K2.10; ...
RecName: Full=Keratin, type II cuticular Hb3; AltName: Full=Hair keratin K2.10; AltName: Full=Keratin-83; Short=K83; AltName: Full=Type II hair keratin Hb3; AltName: Full=Type-II keratin Kb23
gi|218511666|sp|P78385.2|KRT83_HUMA

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