TDRD6
Description
The TDRD6 (tudor domain containing 6) is a protein-coding gene located on chromosome 6.
TDRD6 is a Tudor domain-containing protein involved in germ cell development. It plays a crucial role in the formation of essential structures like the chromatoid body during spermiogenesis, the Balbiani body during oogenesis, and the germ plasm upon fertilization. TDRD6 is also essential for proper miRNA expression and spliceosome maturation. Its function includes facilitating the localization of RNA-dependent helicase UPF1 to the chromatoid body, promoting UPF1-UPF2 and UPF1-DDX4 interactions, which are essential for mRNA degradation through the extended 3'UTR-triggered nonsense-mediated mRNA decay (NMD) pathway. Additionally, TDRD6 contributes to spliceosome maturation and mRNA splicing in prophase I spermatocytes by interacting with arginine N-methyltransferase PRMT5 and symmetrically arginine dimethylated SNRPB.
TDRD6 is also known as CT41.2, NY-CO-45, SPATA36, TDR2, bA446F17.4.
Associated Diseases
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 74
- spermatogenic failure 73
- spermatogenic failure 61
- spermatogenic failures 50
- spermatogenic failure 25
- spermatogenic failure 48
- spermatogenic failure, X-linked, 2
- spermatogenic failure 26
- spermatogenic failure 31
- spermatogenic failure 20
- spermatogenic failure 52
- spermatogenic failure 23
- spermatogenic failure 5
- spermatogenic failure 1
- spermatogenic failure 22
- spermatogenic failure 63
