TUBA3D Chromosome 2
Tubulin alpha 3d
Upload your DNA to see your personal genotypes for variants in TUBA3D.
What This Gene Does
This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Tubulin alpha family
Locus Type
gene with protein product
Location
2q21.1
Ensembl
ENSG00000075886
Associated Conditions (1)
Keratoconus 9
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS569698228 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553500862 | Health Risk | Pathogenic | Keratoconus 9, Keratoconus 9 |
| RS756938019 | Health Risk | Pathogenic | Keratoconus 9, Keratoconus 9 |