TUBA4A Chromosome 2
Tubulin alpha 4a
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What This Gene Does
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
Tubulin alpha family
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000127824
Associated Conditions (1)
Amyotrophic lateral sclerosis type 22
Key Variants
RS2544993085
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22
Health Risk
RS1574884336
Likely pathogenic
Health Risk
RS1951631864
Likely pathogenic
Health Risk
RS1951656756
Likely pathogenic
Health Risk
RS368743618
Likely pathogenic
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22
Health Risk
RS730880025
Likely pathogenic
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22
Health Risk
RS730880026
Pathogenic
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22
Health Risk
RS730880027
Pathogenic
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22
Health Risk
RS730880029
Pathogenic
Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544993085 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |
| RS1574884336 | Health Risk | Likely pathogenic | — |
| RS1951631864 | Health Risk | Likely pathogenic | — |
| RS1951656756 | Health Risk | Likely pathogenic | — |
| RS368743618 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |
| RS730880025 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |
| RS730880026 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |
| RS730880027 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |
| RS730880029 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 22, Amyotrophic lateral sclerosis type 22 |