Aliases for TDRD6 Gene
External Ids for TDRD6 Gene
Previous GeneCards Identifiers for TDRD6 Gene
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]
GeneCards Summary for TDRD6 Gene
TDRD6 (Tudor Domain Containing 6) is a Protein Coding gene. Diseases associated with TDRD6 include Autoimmune Polyendocrine Syndrome Type 1 and Autoimmune Polyendocrine Syndrome. Among its related pathways are Gene Expression and Mitotic Prophase. An important paralog of this gene is TDRD15.
UniProtKB/Swiss-Prot Summary for TDRD6 Gene
Tudor domain-containing protein involved in germ cell development, more specifically the formation of chromatoid body (during spermiogenesis), Balbiani body (during oogenesis), germ plasm (upon fertilization), and for proper miRNA expression and spliceosome maturation (By similarity). Essential for RNA-dependent helicase UPF1 localization to chromatoid body, for UPF1-UPF2 and UPF1-DDX4 interactions which are required for mRNA degradation, using the extended 3' UTR-triggered nonsense-mediated mRNA decay (NMD) pathway. Involved in spliceosome maturation and mRNA splicing in prophase I spermatocytes through interaction with arginine N-methyltransferase PRMT5 and symmetrically arginine dimethylated SNRPB (small nuclear ribonucleoprotein-associated protein) (By similarity).