TUBB4B Chromosome 9
Tubulin beta 4B class IVb
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What This Gene Does
Enables double-stranded RNA binding activity. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in axonemal microtubule; intercellular bridge; and mitotic spindle. Implicated in Leber congenital amaurosis with early-onset deafness. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Tubulin beta family
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000188229
Associated Conditions (1)
Leber congenital amaurosis with early-onset deafness
Key Variants
RS143919939
Conflicting classifications of pathogenicity
Health Risk
RS2131435194
Conflicting classifications of pathogenicity
Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis with early-onset deafness
Health Risk
RS2131433122
Likely pathogenic
Health Risk
RS2538829403
Pathogenic
Health Risk
RS1554786802
Pathogenic/Likely pathogenic
Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis with early-onset deafness
Health Risk
RS1554786803
Pathogenic/Likely pathogenic
Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis with early-onset deafness
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143919939 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2131435194 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis with early-onset deafness |
| RS2131433122 | Health Risk | Likely pathogenic | — |
| RS2538829403 | Health Risk | Pathogenic | — |
| RS1554786802 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis with early-onset deafness |
| RS1554786803 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis with early-onset deafness |