CHTF18
Description
The CHTF18 (chromosome transmission fidelity factor 18) is a protein-coding gene located on chromosome 16.
The CHTF18 gene encodes a protein known as Chromosome transmission fidelity protein 18 homolog, which is involved in ensuring the accurate transmission of chromosomes during cell division. This protein interacts with several other proteins, including DCC1, PCNA, RFC2, RFC3, RFC4, and RFC5.
The CTF18-RFC complex, which is composed of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4, and RFC5, plays a crucial role in sister chromatid cohesion and faithful chromosome transmission during cell division. This complex exhibits weak ATPase activity, which is enhanced by the presence of primed DNA, replication protein A (RPA), and proliferating cell nuclear antigen (PCNA). The complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA, facilitating DNA replication and repair. The CTF18-RFC complex interacts with and activates DNA polymerase POLH, contributing to DNA repair synthesis. Additionally, it is involved in loading DNA polymerase POLE at sites of local DNA damage, further highlighting its role in maintaining genomic stability.
CHTF18 is also known as C16orf41, C321D2.2, C321D2.3, C321D2.4, CHL12, Ctf18, RUVBL.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failure 25
- spermatogenic failures 50
- congenital bilateral absence of vas deferens
- spermatogenic failure 48
- spermatogenic failure 65
- spermatogenic failure, X-linked, 2
- spermatogenic failure 63
- spermatogenic failure, X-linked, 3
- spermatogenic failure 51
- isochromosomy Yp
- spermatogenic failure 39
- spermatogenic failure 40
- spinocerebellar ataxia type 32
- spermatogenic failure 73
