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7277 TUBA4A

7277

TUBA4A

tubulin alpha 4a

protein-coding

Homo sapiens

基因描述

Type Description
Definition tubulin alpha 4a

研究结论

Date Results Publications
2020-02-29 12:35:00 Mice carrying a missense mutation in the Tuba4a gene, and a patient with a monoallelic double missense mutation in the TUBA4A gene displayed macrothrombocytopenia and structural abnormalities in the marginal band of platelets. 30760556
2019-10-12 10:04:00 The frequency of TUBA4A mutations suggests that TUBA4A is a rare cause of Amotrophic Lateral Sclerosis in Chinese patients. 29540513
2018-11-10 10:11:00 Data indicate a microRNA-1825/TBCB/TUBA4A pathway as a putative pathogenic cascade in both familial ALS (fALS) and both sporadic (sALS). 30030593
2018-04-28 11:43:00 The elevated selenium species levels in the TUBA4A patient may have a genetic etiology and/or represent a pathogenic pathway through which this mutation favors disease onset. 28478440
2018-02-03 11:09:00 alphaTubulin expression might be an independent prognostic factor for pancreatic cancer after surgical resection 27447976

名称对应

Type IDs
Synonymous ALS22, H2-ALPHA, TUBA1
Gene
UniProtKB-ID: TBA4A_HUMAN
UniprotKB: P68366
UniParc: UPI000013CC44, UPI0000004129
EMBL: AC068946, CH471063, X06956, AY895018, BC009238, AK299958, AK054731, BT006731, AC114803
Ensembl: ENSG00000127824
KO: hsa:7277
Nucleutide sequences
EMBL-CDS: EAW70718.1, CAA30026.1, BAG51418.1, BAH13182.1, EAW70719.1, AAH09238.1, AAW65371.1, AAP35377.1
Ensembl_TRS: ENST00000392088, ENST00000248437
Protein sequencees
Ensembl_PRO: ENSP00000248437, ENSP00000375938
RefSeq: NP_001265481.1, XP_016860313.1, NP_005991.1
Others
UniRef100: UniRef100_P68366
UniRef90: UniRef90_P68366
UniRef50: UniRef50_Q71U36
UniGene: Hs.75318
CCDS: CCDS63131.1, CCDS2438.1

全选

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