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10324 KLHL41

10324

KLHL41

kelch like family member 41

protein-coding

Homo sapiens

基因描述

Type Description
Definition kelch like family member 41

研究结论

Date Results Publications
2014-02-15 12:34:00 Mutations in KLHL41 showed phenotype-genotype correlation: Frameshift mutations resulted in severe phenotypes with neonatal death, whereas missense changes resulted in impaired motor function with survival into late childhood and/or early adulthood. 24268659

名称对应

Type IDs
Synonymous KBTBD10, Krp1, SARCOSIN
Gene
UniProtKB-ID: KLH41_HUMAN
UniprotKB: O60662
UniParc: UPI0000000DC5, UPI000002AD02
EMBL: AF056929, AC093899, AF333387, BC006534
Ensembl: ENSG00000239474
KO: hsa:10324
Nucleutide sequences
EMBL-CDS: AAG52886.1, AAY24117.1, AAH06534.1, AAC13686.1
Ensembl_TRS: ENST00000284669
Protein sequencees
Ensembl_PRO: ENSP00000284669
RefSeq: NP_006054.2
Others
UniRef100: UniRef100_O60662
UniRef90: UniRef90_O60662
UniRef50: UniRef50_O60662
UniGene: Hs.50550
CCDS: CCDS2234.1

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