DISEASES

Disease-gene associations mined from literature

Literature on TDRD6

TDRD6 [ENSP00000346065]

Tudor domain-containing protein 6; 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).

Synonyms:  TDRD6,  TDRD6p,  hTDRD6,  H0Y590,  O60522 ...

Linkouts:  STRING  Pharos  UniProt  OMIM