Type | Description |
---|---|
Definition | tubulin beta 4A class IVa |
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 |
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
|
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Refseq |
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