tubulin beta 4A class IVa
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset leukodystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAtaxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset dystonia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+11 more panels — install the extension to see the full list inline on any page.
hypomyelinating leukodystrophy 6
Hypomyelination with atrophy of basal ganglia and cerebellum
Primary dystonia, DYT4 type
torsion dystonia 4
prostate cancer
neoplasm
breast cancer
non-small cell lung carcinoma
breast carcinoma
breast neoplasm
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Tubulin beta-4A 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 TUBB4A among their top associated genes.
TUBB4A · P04350
Mean pLDDT
92.2/ 100
Very high
444 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
