Gene: TUBB4A

Alternate names for this Gene: DYT4|TUBB4|beta-5

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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.3

Description of this Gene: tubulin beta 4A class IVa

Type of Gene: protein-coding

rs748787734 in TUBB4A gene and Abnormal posture PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Abnormality of the basal ganglia PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Central hypotonia PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Cerebellar vermis atrophy PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Cerebral hypomyelination PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Developmental regression PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Dysarthria PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Dystonia PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Global developmental delay PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Kinetic tremor PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs483352809 in TUBB4A gene and Leukodystrophy, Hypomyelinating, 6 PMID 24706558 2014 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

PMID 24850488 2014 Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

PMID 23582646 2013 A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 24742798 2014 Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

PMID 26643067 2016 TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

PMID 25085639 2014 TUBB4A de novo mutations cause isolated hypomyelination.

PMID 25772097 2015 Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

PMID 28973395 2017 TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 25168210 2015 TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 29451896 2018 Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

PMID 24974158 2015 A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 25545912 2015 H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

PMID 25497598 2015 Exome sequencing in undiagnosed inherited and sporadic ataxias.

rs587777429 in TUBB4A gene and Movement Disorders PMID 21956287 2011 Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

PMID 24742798 2014 Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

PMID 12372733 2002 New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 24706558 2014 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

PMID 24526230 2014 Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

PMID 20191564 2010 Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 23582646 2013 A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 27188707 2016 Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

PMID 24974158 2015 A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.

PMID 28592043 2017 [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review].

PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

PMID 24850488 2014 Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

PMID 28655586 2017 Screening study of TUBB4A in isolated dystonia.

PMID 25168210 2015 TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 25545912 2015 H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

PMID 25085639 2014 TUBB4A de novo mutations cause isolated hypomyelination.

PMID 26318963 2015 Large-scale TUBB4A mutational screening in isolated dystonia and controls.

PMID 26643067 2016 TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

rs748787734 in TUBB4A gene and Muscle Hypertonia PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs587777429 in TUBB4A gene and Muscle hypotonia PMID 21956287 2011 Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

PMID 23582646 2013 A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 20191564 2010 Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 12372733 2002 New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 25085639 2014 TUBB4A de novo mutations cause isolated hypomyelination.

PMID 24526230 2014 Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

PMID 24742798 2014 Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

PMID 25168210 2015 TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 24850488 2014 Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

PMID 24706558 2014 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

PMID 27188707 2016 Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

PMID 26318963 2015 Large-scale TUBB4A mutational screening in isolated dystonia and controls.

PMID 28655586 2017 Screening study of TUBB4A in isolated dystonia.

PMID 26643067 2016 TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

PMID 28592043 2017 [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review].

PMID 24974158 2015 A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.

PMID 25545912 2015 H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

rs748787734 in TUBB4A gene and Nystagmus PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.