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126695 KDF1

126695

KDF1

keratinocyte differentiation factor 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition keratinocyte differentiation factor 1

研究结论

Date Results Publications
2017-07-01 10:06:00 We describe a family with a novel, autosomal dominant form of ectodermal dysplasia that we suggest is the mild human equivalent of the shd mutant phenotype in mouse based on the finding of a novel KDF1 variant by positional mapping and exome sequencing. 27838789

名称对应

Type IDs
Synonymous C1orf172, ECTD12
Gene
UniProtKB-ID: KDF1_HUMAN
UniprotKB: Q8NAX2
UniParc: UPI00001408F3
EMBL: AK091952, AL356390, BC033143
Ensembl: ENSG00000175707
KO: hsa:126695
Nucleutide sequences
EMBL-CDS: BAC03775.1, AAH33143.1
Ensembl_TRS: ENST00000320567
Protein sequencees
Ensembl_PRO: ENSP00000319179
RefSeq: XP_005245792.1, NP_689578.2, XP_011538924.1
Others
UniRef100: UniRef100_Q8NAX2
UniRef90: UniRef90_A2A9F4
UniRef50: UniRef50_A2A9F4
UniGene: Hs.188881
CCDS: CCDS293.1

全选

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研究热度

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