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10382 TUBB4A

10382

TUBB4A

tubulin beta 4A class IVa

protein-coding

Homo sapiens

基因描述

Type Description
Definition tubulin beta 4A class IVa

研究结论

Date Results Publications
2021-04-17 13:17:00 DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations. 32943487
2019-10-12 10:52:00 Neuroblastoma cells expressing TUBB4A mutations p.D249N and p.A271T showed reduced neurite outgrowth, less dynamic microtubules, and an altered Kif-5 binding affinity. Endogenously mutated induced pluripotent stem cell (iPSC)-derived neurons from patients and in CRISPR/Cas9-derived heterozygous TUBB4A knockout iPSC-derived neurons, we detected alterations in mitochondrial transport. 30079973
2019-01-12 11:16:00 In summary, betaV-tubulin was localized to secretory cells of the distal Fallopian tube epithelium and its expression varied according to the clinical diagnosis. 29298171
2018-05-19 10:12:00 TUBB3 and TUBB4 are necessary for the transport and proper localization of N-cadherin within the plasma membrane. 28648944
2018-04-28 11:41:00 The data of this studies suggest that mutations in TUBB4A exceedingly rarely contribute to the etiology of isolated dystonia. 28655586

名称对应

Type IDs
Synonymous DYT4, TUBB4, beta-5
Gene
UniProtKB-ID: TBB4A_HUMAN
UniprotKB: P04350
UniParc: UPI000005FC27
EMBL: BC013683, X00734, AK075307, BC006570, CH471139
Ensembl: ENSG00000104833
KO: hsa:10382
Nucleutide sequences
EMBL-CDS: AAH13683.1, EAW69078.1, BAG52106.1, AAH06570.1, CAA25318.1
Ensembl_TRS: ENST00000264071
Protein sequencees
Ensembl_PRO: ENSP00000264071
RefSeq: NP_001276052.1, NP_001276058.1, NP_006078.2, NP_001276059.1, NP_001276060.1, NP_001276056.1
Others
UniRef100: UniRef100_P04350
UniRef90: UniRef90_P04350
UniRef50: UniRef50_P04350
UniGene: Hs.110837
CCDS: CCDS12168.1

全选

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研究热度

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