TUBB8

Chr 10ADAR

tubulin beta 8 class VIII

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. TUBB8 has a key role in meiotic spindle assembly and oocyte maturation (PubMed:26789871, PubMed:34509376)

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Oocyte/zygote/embryo maturation arrest 2MIM #616780
ADAR
0
Active trials
16
Pubs (1 yr)
P/LP submissions
P/LP missense
1.53
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.018
Z-score 0.77
OE 0.62 (0.281.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.86Z-score
OE missense 0.68 (0.600.77)
183 obs / 268.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.281.53)
00.351.4
Missense OE?0.68 (0.600.77)
00.61.4
Synonymous OE?1.64
01.21.6
LoF obs/exp: 3 / 4.8Missense obs/exp: 183 / 268.8Syn Z: -5.35

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

TUBB8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →