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Group enriched (cerebellum, brain, caudate, hippocampus, testis)
Protein evidence
Evidence at protein level
Protein expression
Cytoplasmic expression mainly in CNS and testis.
DATA RELIABILITY
Data reliability description
Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene. Presumed off target binding observed and disregarded. External characterization data supports antibody staining.
RNA tissue category: Group enriched (cerebellum, brain, caudate, hippocampus, testis)
GENE INFORMATION
Gene name
TUBB4A (HGNC Symbol)
Synonyms
beta-5, DYT4, TUBB4
Description
Tubulin, beta 4A class IVa (HGNC Symbol)
Entrez gene summary
This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)