TUBB4A - tubulin beta 4A class IVa Gene

Homo sapiens

Also known as DYT4; TUBB4; beta-5

Gene ID: 10382 | Gene type: protein coding

About TUBB4A

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:6,494,319-6,502,848 (from NCBI)

This gene has 13 transcripts (splice variants), 87 orthologues, 23 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 224.5), adrenal (RPKM 54.5) and 1 other tissue.

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]

TUBB4A Products(6)

mRNA	Protein	Name
NM_001289123.2	NP_001276052.1	tubulin beta-4A chain isoform 1
NM_001289127.2	NP_001276056.1	tubulin beta-4A chain isoform 2
NM_001289129.2	NP_001276058.1	tubulin beta-4A chain isoform 3
NM_001289130.2	NP_001276059.1	tubulin beta-4A chain isoform 4
NM_001289131.2	NP_001276060.1	tubulin beta-4A chain isoform 4
NM_006087.4	NP_006078.2	tubulin beta-4A chain isoform 3

TUBB4A Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
444 a.a.

Protein Preferred Names

Protein Names

tubulin beta-4A chain

dystonia 4, torsion (autosomal dominant)

Recombinant TUBB4A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71075	TUBB4A Protein, Human (His)	P04350 (M1-A444)	≥95%

Related Diseases

Diseases

Alias

Leukodystrophy, Hypomyelinating, 6

Habc	Hypomyelinating Leukodystrophy 6
HLD6	H-Abc
Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum	Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum
Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum	HLD
Leukodystrophy, Hypomyelinating, Type 6

Dystonia 4, Torsion, Autosomal Dominant

DYT4	Dystonia Musculorum Deformans 4
Hereditary Whispering Dysphonia	Whispering Dysphonia, Hereditary
Dyt-Tubb4a	Autosomal Dominant Torsion Dystonia-4
Whispering Dysphonia	Primary Dystonia, Dyt4 Type
Dystonia-4	Dystonia, Type 4, Torsion, Autosomal Dominant

Torsion Dystonia 4

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Tubulin, Beta

Leukodystrophy

Leukodystrophies

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Tubulinopathy

Tubulinopathies

Spasmodic Dystonia

Laryngeal Dystonia

Dystonia 25

DYT25	Dystonia-25
Dystonia, Type 25

Torsion Dystonia 2

Dystonia 2, Torsion, Autosomal Recessive

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Segmental Dystonia

Leukodystrophy, Hypomyelinating, 4

Mitochondrial Hsp60 Chaperonopathy	Hypomyelinating Leukodystrophy 4
HLD4	Mitchap60 Disease
Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation	Mitchap-60 Disease
Leukodystrophy, Hypomyelinating, Type 4

Fleck Retina, Familial Benign

FRFB	Familial Benign Flecked Retina
Familial Benign Fleck Retina

Larynx Squamous Papilloma

Laryngeal Squamous Cell Papilloma

Focal Dystonia

Dystonia, Focal, Task-Specific

Dystonia 12

DYT12	Rdp
Generalized Dystonia	Dystonia-12
Rapid-Onset Dystonia-Parkinsonism	Familial Dystonia
Dystonia Musculorum Deformans	Dystonic Disorders
Idiopathic Familial Dystonia	Dystonia-Parkinsonism, Rapid-Onset
Fragments Of Torsion Dystonia	Dyt-Atp1a3
Rapid-Onset Dystonia Parkinsonism	Rodp
Dystonia, Type 12	Dystonia 3, Torsion, X-Linked
Idiopathic Non-Familial Dystonia	Symptomatic Torsion Dystonia
Dystonia Disorders

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h	CSNB1H
Congenital Stationary Night Blindness Type 1h	Night Blindness, Congenital Stationary, 1h

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

MLC2A	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a

Pelizaeus-Merzbacher Disease

PMD	HLD1
Pelizaeus-Merzbacher Brain Sclerosis	Leukodystrophy, Hypomyelinating, 1
Diffuse Familial Brain Sclerosis	Pelizaeus Merzbacher Brain Sclerosis
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type	Cockayne-Pelizaeus-Merzbacher Disease
Hypomyelinating Leukodystrophy 1	Leukodystrophy, Sudanophilic
Pelizaeus Merzbacher Disease	Hypomyelinating Leukodystrophy, 1
Sudanophilic Leukodystrophy	Pelizaeus-Merzbacher Disease, Connatal Form
Connatal Pmd	Pelizaeus-Merzbacher Disease Type Ii
Severe Pmd	Null Syndrome
Plp1 Null Syndrome	Pelizaeus-Merzbacher Disease, Null Syndrome
Brain Sclerosis Diffuse Familial	Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Leukodystrophy Hypomyelinating 1	Diffuse Cerebral Sclerosis Of Schilder

Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract	HLD5
Hypomyelination-Congenital Cataract Syndrome	Hypomyelinating Leukodystrophy 5
Hcc	Hypomyelination And Congenital Cataract: Hcc
Hypomyelination - Congenital Cataract	Hypomyelination With Congenital Cataract

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Mantle Cell Lymphoma

Lymphoma, Mantle Cell	Lcm
Mcl	Mantle Zone Lymphoma
Lymphoma Mantle-Cell	Lymphoma, Mantle-Cell
Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse	Malignant Lymphoma - Lymphocytic, Intermediate Differentiation
Diffuse Small Cleaved-Cell Lymphoma	Diffuse Small Cleaved Cell Malignant Lymphoma
Small Cleaved Cell Non-Hodgkin Lymphoma	Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma
Malignant Lymphomatous Polyposis	Malignant Small Cell, Noncleaved, Diffuse Lymphoma
Malignant Undifferentiated Cell, Non-Burkitt Lymphoma	Cleaved Cell Lymphoma
Small Cell Mantle Cell Lymphoma	Small Cleaved Cell Malignant Lymphoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15255	TUBB4A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TUBB4A	VGNC	VGNC:66700
Mus musculus	TUBB4A	MGD	MGI:107848
Bos taurus	TUBB4A	VGNC	VGNC:36507
Rattus norvegicus	TUBB4A	RGD	RGD:619730
Canis familiaris	TUBB4A	VGNC	VGNC:47989
Others	TUBB4A	NCBI

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