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390594 KBTBD13

390594

KBTBD13

kelch repeat and BTB domain containing 13

protein-coding

Homo sapiens

基因描述

Type Description
Definition kelch repeat and BTB domain containing 13

研究结论

Date Results Publications
2020-09-19 16:26:00 KBTBD13 is an actin-binding protein that modulates muscle kinetics. 31671076
2012-08-18 10:43:00 these results demonstrate that KBTBD13 is a putative substrate adaptor for Cul3-RL that functions as a muscle specific ubiquitin ligase, and thereby implicate the ubiquitin proteasome pathway in the pathogenesis of KBTBD13-associated NEM. 22542517
2011-01-22 10:28:00 mutation screening led to the identification of a previously uncharacterized gene, KBTBD13, coding for a hypothetical protein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied families 21109227

名称对应

Type IDs
Synonymous HCG1645727, NEM6
Gene
UniProtKB-ID: KBTBD_HUMAN
UniprotKB: C9JR72
UniParc: UPI0000161560
EMBL: CH471082, AC013553
Ensembl: ENSG00000234438
KO: hsa:390594
Nucleutide sequences
EMBL-CDS: EAW77711.1
Ensembl_TRS: ENST00000432196
Protein sequencees
Ensembl_PRO: ENSP00000388723
RefSeq: NP_001094832.1
Others
UniRef100: UniRef100_C9JR72
UniRef90: UniRef90_C9JR72
UniRef50: UniRef50_C9JR72
UniGene: Hs.586890
CCDS: CCDS45281.1

全选

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研究热度

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