TUBB6 Chromosome 18
Tubulin beta 6 class V
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What This Gene Does
Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in intercellular bridge; microtubule; and mitotic spindle. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Tubulin beta family
Locus Type
gene with protein product
Location
18p11.21
Ensembl
ENSG00000176014
Associated Conditions (4)
Ptosis
Facial palsy
congenital
with ptosis and velopharyngeal dysfunction
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2510213796 | Health Risk | Likely pathogenic | Ptosis, Ptosis |
| RS1555669248 | Health Risk | Pathogenic | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction |