| Type | Description |
|---|---|
| Definition | tubulin beta 8 class VIII |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:28:00 | Novel mutations in TUBB8 expand the mutational and phenotypic spectrum of patients with zygotes containing multiple pronuclei. | 33059025 |
| 2019-05-11 10:33:00 | TUBB8 mutations cause oocyte maturation arrest, fertilization failure, early embryonic arrest and embryo implantation failure. | 30297906 |
| 2019-03-30 10:40:00 | A novel missense TUBB8 mutation (c.1054G > T, p.A352S) in the patient and her elder sister was detected and shown to be associated with oocyte maturation arrest as the cause for their infertility. | 29877102 |
| 2018-12-22 10:47:00 | This TUBB8 variant in one infertile individual was absent in the 100 fertile females and was predicted to be highly damaging to the function of the TUBB8 protein by SIFT and PolyPhen-2. | 29671363 |
| 2018-11-03 12:05:00 | A homozygous mutation of TUBB8 associated with complete cleavage failure in fertilized eggs. | 29704226 |
| Type | IDs |
|---|---|
| Synonymous | OOMD, OOMD2, bA631M21.2 |
| Gene |
UniProtKB-ID:
TBB8_HUMAN
UniprotKB:
Q3ZCM7
UniParc:
UPI000007238E
EMBL:
AL713922,
CH471072,
CR590375,
AF355127,
BC101270,
BC101271
Ensembl:
ENSG00000261456
KO:
hsa:347688
|
| Nucleutide sequences |
EMBL-CDS:
AAI01272.1,
AAL32434.1,
EAW86545.1,
AAI01271.1
Ensembl_TRS:
ENST00000568584
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000456206
RefSeq:
NP_817124.1,
XP_011517762.1,
XP_011517761.1,
XP_016871681.1,
XP_016871682.1
|
| Others |
UniRef100:
UniRef100_Q3ZCM7
UniRef90:
UniRef90_Q3ZCM7
UniRef50:
UniRef50_Q3ZCM7
UniGene:
Hs.532659
CCDS:
CCDS7051.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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