TTC12 Chromosome 11
Tetratricopeptide repeat domain 12
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What This Gene Does
Involved in axonemal dynein complex assembly and sperm axoneme assembly. Located in several cellular components, including centrosome; cytosol; and nuclear membrane. Implicated in acute lymphoblastic leukemia; alcohol dependence; drug dependence (multiple); nicotine dependence; and primary ciliary dyskinesia 45. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
11q23.2
Ensembl
ENSG00000149292
Associated Conditions (7)
Inborn genetic diseases
Ciliary dyskinesia
primary
45
TTC12-related disorder
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Key Variants
RS140600385
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199526774
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 45
Health Risk
RS201244916
Pathogenic
Ciliary dyskinesia, primary, 45
Health Risk
RS372955658
Pathogenic
Ciliary dyskinesia, primary, 45
Health Risk
RS781864891
Pathogenic
Ciliary dyskinesia, primary, 45
Health Risk
RS782378503
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782603932
Pathogenic
Ciliary dyskinesia, primary, 45
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140600385 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199526774 | Health Risk | Conflicting classifications of pathogenicity | Ciliary dyskinesia, primary, 45 |
| RS201244916 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 45 |
| RS372955658 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 45 |
| RS781864891 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 45 |
| RS782378503 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS782603932 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 45 |