TUBA8 Chromosome 22
Tubulin alpha 8
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What This Gene Does
This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Tubulin alpha family
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000183785
Associated Conditions (6)
TUBA8-related disorder
Polymicrogyria with optic nerve hypoplasia
Macrothrombocytopenia
isolated
2
autosomal dominant
Key Variants
RS138073466
Conflicting classifications of pathogenicity
TUBA8-related disorder, TUBA8-related disorder
Health Risk
RS140202346
Conflicting classifications of pathogenicity
Polymicrogyria with optic nerve hypoplasia, Polymicrogyria with optic nerve hypoplasia
Health Risk
RS2234333
Conflicting classifications of pathogenicity
Health Risk
RS774431958
Conflicting classifications of pathogenicity
Health Risk
RS2123699789
Pathogenic
Macrothrombocytopenia, isolated, 2
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138073466 | Health Risk | Conflicting classifications of pathogenicity | TUBA8-related disorder, TUBA8-related disorder |
| RS140202346 | Health Risk | Conflicting classifications of pathogenicity | Polymicrogyria with optic nerve hypoplasia, Polymicrogyria with optic nerve hypoplasia |
| RS2234333 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774431958 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2123699789 | Health Risk | Pathogenic | Macrothrombocytopenia, isolated, 2 |