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55958 KLHL9

55958

KLHL9

kelch like family member 9

protein-coding

Homo sapiens

基因描述

Type Description
Definition kelch like family member 9

研究结论

Date Results Publications
2010-09-15 22:05:00 Observational study of gene-disease association. (HuGE Navigator) 20574843
2010-07-26 11:50:00 A unique form of early onset autosomal dominant distal myopathy is associated with a kelch-like homologue 9 mutation and interferes with normal skeletal muscle through a novel pathogenetic mechanism. 20554658

名称对应

Type IDs
Gene
UniProtKB-ID: KLHL9_HUMAN, Q58EZ4_HUMAN
UniprotKB: Q9P2J3, Q58EZ4
UniParc: UPI0000049FCF
EMBL: CH471071, AK091715, AB037775, AL713669, BC113513, BC105008, BC039133
Ensembl: ENSG00000198642
KO: hsa:55958
Nucleutide sequences
EMBL-CDS: CAD28475.1, BAA92592.1, AAI05009.1, AAH39133.1, EAW58614.1, AAI13514.1, BAG52403.1
Gene_ORFName: hCG_1647676
Ensembl_TRS: ENST00000359039
Protein sequencees
Ensembl_PRO: ENSP00000351933
RefSeq: NP_061335.1
Others
UniRef100: UniRef100_Q9P2J3
UniRef90: UniRef90_Q9P2J3
UniRef50: UniRef50_Q9P2J3
UniGene: Hs.701778, Hs.710126, Hs.744736
CCDS: CCDS6503.1

全选

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研究热度

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