TUBB3 Chromosome 16
Tubulin beta 3 class III
Upload your DNA to see your personal genotypes for variants in TUBB3.
What This Gene Does
This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
Gene Info
Gene Group
Tubulin beta family
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000258947
Associated Conditions (19)
Complex cortical dysplasia with other brain malformations 1
TUBB3-related disorder
Fibrosis of extraocular muscles
congenital
3A
with or without extraocular involvement
Developmental disorder
TUBB3-related tubulinopathy
Inborn genetic diseases
Arrhythmogenic right ventricular dysplasia 8
Spastic ataxia
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Lissencephaly
Abnormal cerebral morphology
See cases
TUBB3-Releated Disorders
Brain malformation
Congenital fibrosis of extraocular muscles
Intellectual disability
Key Variants
RS1057518686
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
Health Risk
RS1064795231
Conflicting classifications of pathogenicity
Health Risk
RS142238093
Conflicting classifications of pathogenicity
Health Risk
RS144873806
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 1, TUBB3-related disorder, Complex cortical dysplasia with other brain malformations 1
Health Risk
RS147283850
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 1, TUBB3-related disorder, Complex cortical dysplasia with other brain malformations 1
Health Risk
RS1555625363
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 1, Fibrosis of extraocular muscles, congenital
Health Risk
RS1597425155
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
Health Risk
RS2030410834
Conflicting classifications of pathogenicity
TUBB3-related tubulinopathy, TUBB3-related tubulinopathy
Health Risk
RS2151092918
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
Health Risk
RS2151092961
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
Health Risk
RS2151093027
Conflicting classifications of pathogenicity
Health Risk
RS2544615173
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267607164 | Health Risk | Pathogenic | Fibrosis of extraocular muscles, congenital, 3A |
| RS267607165 | Health Risk | Pathogenic | Fibrosis of extraocular muscles, congenital, 3A |
| RS878853256 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1 |
| RS878853257 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1 |
| RS878853258 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1 |
| RS1057517908 | Health Risk | Pathogenic/Likely pathogenic | TUBB3-related disorder, Complex cortical dysplasia with other brain malformations 1, Fibrosis of extraocular muscles |
| RS1057521924 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 1, Abnormal cerebral morphology, TUBB3-related tubulinopathy |
| RS1131691895 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 1, Brain malformation, Congenital fibrosis of extraocular muscles |
| RS1555625571 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 1, Fibrosis of extraocular muscles |
| RS587784505 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 1, Fibrosis of extraocular muscles, congenital |
| RS747480526 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 1, Inborn genetic diseases, Fibrosis of extraocular muscles |
| RS864321715 | Health Risk | Pathogenic/Likely pathogenic | Fibrosis of extraocular muscles, congenital, 3A |
| RS864321716 | Health Risk | Pathogenic/Likely pathogenic | Fibrosis of extraocular muscles, congenital, 3A |
| RS878853279 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1 |
| RS886041459 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1 |