TDRKH Chromosome 1
Tudor and KH domain containing
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What This Gene Does
Predicted to enable RNA binding activity. Predicted to be involved in several processes, including P granule organization; male meiotic nuclear division; and piRNA processing. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Tudor domain containing
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000182134
Associated Conditions (2)
Distal spinal muscular atrophy
Azoospermia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375454176 | Health Risk | Conflicting classifications of pathogenicity | Distal spinal muscular atrophy, Distal spinal muscular atrophy |
| RS2101585615 | Health Risk | Pathogenic | Azoospermia, Azoospermia |