TDRD12
Description
The TDRD12 (tudor domain containing 12) is a protein-coding gene located on chromosome 19.
TDRD12, a putative ATP-binding RNA helicase, plays a crucial role in spermatogenesis by repressing transposable elements and preventing their mobilization. This is essential for maintaining the integrity of the germline. TDRD12 participates in the piRNA metabolic process, which involves the formation of complexes containing piRNAs and Piwi proteins, leading to the methylation and subsequent silencing of transposons. This process occurs during meiosis and helps control transposable elements. TDRD12 is also involved in the secondary piRNA metabolic process, acting via the PET complex. This complex facilitates the loading of PIWIL4 piRNAs by PIWIL2 slicing, which is essential for the secondary piRNA pathway.
TDRD12 is also known as ECAT8.
Associated Diseases
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failures 50
- spermatogenic failure 25
- spermatogenic failure, X-linked, 2
- isochromosomy Yp
- spermatogenic failure 63
- spinocerebellar ataxia type 32
- congenital bilateral absence of vas deferens
- spermatogenic failure 61
- spermatogenic failure 73
- spermatogenic failure 74
