C1orf146
Description
The C1ORF146 (chromosome 1 open reading frame 146) is a protein-coding gene located on chromosome 1.
C1ORF146 is a protein that plays a crucial role in maintaining the structure and function of the synaptonemal complex (SC), a protein structure essential for proper chromosome pairing and recombination during meiosis. It reinforces the central element of the SC, thereby stabilizing the entire complex and ensuring the successful progression of meiotic prophase I in both male and female germ cells. Additionally, C1ORF146 promotes homologous recombination and crossing-over during meiotic prophase I through its interaction with SHOC1. It is also required for the proper localization of TEX11 and MSH4, proteins involved in the process of recombination, to recombination intermediates.
C1ORF146 is also known as SCRE, SPO16.
Associated Diseases
- type 1 diabetes mellitus
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spinocerebellar ataxia type 32
- congenital bilateral absence of vas deferens
- spermatogenic failures 50
- spermatogenic failure 25
- isochromosomy Yp
- spermatogenic failure, X-linked, 2
- spermatogenic failure 61
- spermatogenic failure 48
- spermatogenic failure 73
- spermatogenic failure 74
- isochromosomy Yq
- spermatogenic failure 63
- partial androgen insensitivity syndrome
