| MLH |
MLH1 |
Encodes a protein which heterodimerizes with MMR endonuclease PMS2 to form MutL alpha. |
Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome; Mismatch repair cancer syndrome |
120436 |
| MLH3 |
Member of the MutL-homolog (MLH) family, maintains genomic integrity during DNA replication and after meiotic recombination. |
Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer, somatic; Susceptibility to Endometrial cancer |
604395 |
| MSH |
MSH2 |
Forms 2 different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches to initiate DNA repair |
Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome; Mismatch repair cancer syndrome |
609309 |
| MSH3 |
Forms a hetero-dimer with MSH2 to form MutS beta which forms a complex with MutL alpha heterodimer and initiates mismatch repair by binding to a mismatch. |
Endometrial carcinoma, somatic; Familial adenomatous polyposis 4 |
600887 |
| MSH6 |
A component of the post-replicative DNA MMR system. Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches to initiate DNA repair. |
Colorectal cancer, hereditary nonpolyposis, type 5; Endometrial cancer, familial; Mismatch repair cancer syndrome |
600678 |
| PMS |
PMS1 |
Forms heterodimers with MLH1. Encoded protein belongs to the DNA MMR mutL/hexB family. |
Hereditary nonpolyposis colorectal cancer type 3 (HNPCC3); Lynch syndrome |
600258 |
| PMS2 |
Forms MutL-alpha heterodimer (MLH1-PMS2 hetetrodimer) which activates endonucleolytic activity following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers. |
Colorectal cancer, hereditary nonpolyposis, type 4; Mismatch repair cancer syndrome |
600259 |
|
EXO1 |
Encodes a protein with 5' to 3' exonuclease and RNase H activities. Similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 for MMR. |
|
606063 |
| RFC |
RFC1 |
Encodes large subunit of replication factor C, a 5 subunit DNA polymerase accessory protein (DNA-dependent ATPase required for eukaryotic DNA replication and repair). |
|
102579 |
| RFC2 |
Encodes 40-kD subunit, responsible for binding ATP and may help promote cell survival |
Disruption of this gene is associated with Williams syndrome |
600404 |
| RFC3 |
Encodes 38-kD subunit, responsible for binding ATP and may help promote cell survival |
|
600405 |
| RFC4 |
Encodes 37-kD subunit, responsible for binding ATP and may help promote cell survival |
|
102577 |
| RFC5 |
Encodes 36.5-kD subunit, responsible for binding ATP and may help promote cell survival |
|
600407 |
|
PCNA |
Encodes a protein which acts as a homotrimer and helps increase the process of leading strand synthesis during DNA replication, also involved in the RAD6-dependent DNA repair pathway |
ataxia-telangiectasia-like disorder-2 (ATLD2) |
176740 |
|
LIG1 |
Encodes a member of the ATP-dependent DNA ligase protein family, which functions in DNA replication, recombination, and the base excision repair process. |
Mutations in gene leads to ligase-I deficiency resulting in immunodeficiency and increased sensitivity to DNA-damaging agents associated with variety of cancers |
126391 |
| RPA |
RPA1 |
Encodes the subunit of heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA, forming a nucleoprotein complex. Complex is involved in DNA metabolism, replication, repair, recombination, telomere maintenance. |
knockdown of RPA1 in HeLa cells caused accumulation of cells in S and G2/M phases, followed by cell death |
179835 |
| RPA2 |
Same as above |
|
179836 |
| RPA3 |
Same as above |
|
179837 |
| POLD |
POLD1 |
Encodes a catalytic subunit of DNA polymerase delta, which possesses both polymerase and 3' to 5' exonuclease activity, important for DNA replication and repair. |
Colorectal cancer, Susceptibility to, CRC-10; CRCS10; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome |
174761 |
| POLD2 |
Encodes 50-kDa catalytic subunit of DNA polymerase delta which possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. |
Expression of this gene may be a marker for ovarian carcinomas |
600815 |
| POLD3 |
Encodes the 66-kDa subunit of DNA polymerase delta. |
|
611415 |
| POLD4 |
Encodes the smallest subunit of DNA polymerase delta POLDS-P12. |
|
611525 |
