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112802 KRT71

112802

KRT71

keratin 71

protein-coding

Homo sapiens

基因描述

Type Description
Definition keratin 71

研究结论

Date Results Publications
2013-02-16 10:27:00 Demonstration of the heterozygous mutation c.422T>G (p.Phe141Cys) within the helix initiation motif of the inner root sheath-specific keratin K71 (KRT71) gene in affected family members with autosomal dominant woolly hair/hypotrichosis. 22592156
2010-01-21 00:00:00 A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized huxley cells (Flugelzellen) of the human hair follicle.(HK6IRS1) 11982755

名称对应

Type IDs
Synonymous HYPT13, K6IRS1, KRT6IRS, KRT6IRS1
Gene
UniProtKB-ID: K2C71_HUMAN
UniprotKB: Q3SY84
UniParc: UPI0000052B57
EMBL: AJ308599, CH471054, AK122795, AC055736, BC103917, BC103918
Ensembl: ENSG00000139648
KO: hsa:112802
Nucleutide sequences
EMBL-CDS: CAC43429.1, EAW96636.1, AAI03918.1, BAG53733.1, AAI03919.1
Ensembl_TRS: ENST00000267119
Protein sequencees
Ensembl_PRO: ENSP00000267119
RefSeq: NP_258259.1, XP_016874238.1
Others
UniRef100: UniRef100_Q3SY84
UniRef90: UniRef90_Q3SY84
UniRef50: UniRef50_P19013
UniGene: Hs.660007
CCDS: CCDS8831.1

全选

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