tubulin alpha 1a
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCerebellar hypoplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+7 more panels — install the extension to see the full list inline on any page.
lissencephaly due to TUBA1A mutation
tubulinopathy
tubulinopathy-associated dysgyria
lissencephaly type 3
Intellectual disability
breast cancer
non-small cell lung carcinoma
breast carcinoma
neoplasm
prostate cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Tubulin alpha-1A chain
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
Curated MONDO disease pages that list TUBA1A among their top associated genes.
TUBA1A · Q71U36
Mean pLDDT
91.1/ 100
Very high
451 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
