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283989 TSEN54

283989

TSEN54

tRNA splicing endonuclease subunit 54

protein-coding

Homo sapiens

基因描述

Type Description
Definition tRNA splicing endonuclease subunit 54

研究结论

Date Results Publications
2016-09-03 12:05:00 TSEN54 gene-related pontocerebellar hypoplasia type 2 presented with exaggerated startle response in cousins. 26701950
2015-05-16 12:04:00 A novel heterozygous mutation was found in the TSEN54 gene by c.254A > T(+) (p.E85V), which may be a new subtype of hereditary ataxia 24938831
2012-03-31 11:16:00 TSEN54 mutation causes a severe form of pontocerebellar hypoplasia type 1 in a family. 21468723
2011-07-02 10:43:00 The results demonistrated that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54. 21383226
2010-11-13 10:20:00 We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype. 20956791

名称对应

Type IDs
Synonymous PCH2A, PCH4, PCH5, SEN54L, sen54
Gene
UniProtKB-ID: SEN54_HUMAN
UniprotKB: Q7Z6J9
UniParc: UPI00001C1FD2, UPI0001D14783
EMBL: AK094466, BC047793, BC053643, AC100787
Ensembl: ENSG00000182173
KO: hsa:283989
Nucleutide sequences
EMBL-CDS: AAH53643.1, BAC04362.1, AAH47793.1
Ensembl_TRS: ENST00000333213
Protein sequencees
Ensembl_PRO: ENSP00000327487
RefSeq: NP_997229.2
Others
UniRef100: UniRef100_Q7Z6J9
UniRef90: UniRef90_Q7Z6J9
UniRef50: UniRef50_Q7Z6J9
UniGene: Hs.378501
CCDS: CCDS11724.1

全选

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