SPOCD1
Description
The SPOCD1 (SPOC domain containing 1) is a protein-coding gene located on chromosome 1.
SPOCD1 plays a crucial role in the PIWIL4-piRNA pathway, which silences transposons in male embryonic germ cells. It acts as an essential executor, facilitating DNA methylation and silencing of these transposons. SPOCD1 interacts with the de novo DNA methylation machinery and repressive chromatin remodeling complexes, enabling the recruitment of these activities to nascent transposable element transcripts. This recruitment is mediated by PIWIL4, which binds to the transcripts and then associates with SPOCD1. Importantly, SPOCD1 is not required for piRNA biosynthesis.
SPOCD1 is also known as PPP1R146.
Associated Diseases
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- spinocerebellar ataxia type 32
- spermatogenic failures 50
- congenital bilateral absence of vas deferens
- spermatogenic failure 25
- spermatogenic failure, X-linked, 2
- isochromosomy Yp
- isolated congenital hypogonadotropic hypogonadism
- spermatogenic failure 63
- isochromosomy Yq
- 46,XX testicular disorder of sex development
- partial androgen insensitivity syndrome