TDRD6 Chromosome 6
Tudor domain containing 6
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What This Gene Does
This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
Tudor domain containing
Locus Type
gene with protein product
Location
6p12.3
Ensembl
ENSG00000180113
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS190017041 | Health Risk | Conflicting classifications of pathogenicity | — |