TDRKH
Description
The TDRKH (tudor and KH domain containing) is a protein-coding gene located on chromosome 1.
Tudor and KH domain-containing protein is a protein that in humans is encoded by the TDRKH gene.
TDRKH plays a crucial role in the primary piRNA biogenesis pathway, particularly during spermatogenesis. It is essential for repressing transposable elements and preventing their mobilization, thus safeguarding germline integrity. This protein participates in the final steps of primary piRNA biogenesis by processing 31-37 nucleotide intermediates into mature piRNAs. It may also function in pi-bodies and piP-bodies by transferring piRNA precursors or intermediates between these granules.
TDRKH is also known as TDRD2.
Associated Diseases
- distal hereditary motor neuropathy
- substance abuse
- breast cancer
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- spinocerebellar ataxia type 32
- spermatogenic failure, X-linked, 2
- spermatogenic failure 25
- spermatogenic failures 50
