MutL Homolog 1 Peptide 1


Background

Catalog Number:

CPTC-MLH1-1

Target Antigen:

MutL Homolog 1 Peptide 1

Isotype:

IgG

Species:

Rabbit Monoclonal Antibody

Last Updated:

05/19/2021

Antigen Recognition(s):

Peptide, Recombinant Full-length

Characterization Data [Compare Characterization Data]
Background

NCI Identification Number:

00379

Antigen Name:

MutL Homolog 1 Peptide 1

CPTC Name:

CPTC-MLH1 Peptide 1

Keywords:

MutL Homolog 1; DNA Mismatch Repair Protein Mlh1; HNPCC2; COCA2; HNPCC; FCC2; MutL (E. Coli) Homolog 1 (Colon Cancer, Nonpolyposis Type 2); MutL Homolog 1, Colon Cancer, Nonpolyposis Type 2 (E. Coli); MutL Homolog 1, Colon Cancer, Nonpolyposis Type 2; MutL Protein Homolog 1; HMLH1; MLH1

Function:

The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC).MLH1 is a tumor suppressor gene involved in DNA mismatch repair. Germline mutations in this gene are known to cause Lynch syndrome. The most common malignancies in Lynch syndrome are colorectal and endometrial carcinomas. In addition to germline mutations, somatic mutations in this gene have been described in colorectal and endometrial cancers.MLH1 (MutL Homolog 1) is a Protein Coding gene. Diseases associated with MLH1 include Colorectal Cancer, Hereditary Nonpolyposis, Type 2 and Mismatch Repair Cancer Syndrome. Among its related pathways are Gastric cancer and Mismatch repair. Gene Ontology (GO) annotations related to this gene include ATPase activity and mismatched DNA binding. An important paralog of this gene is PMS2.Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis.

Chromosomal Localization:

3p22.2

NCBI Accession Number:

NP_000240.1

UniProt Accession Number:

P40692

DNA Source:

N/A

Immunogen:

Synthetic Peptide

Vector Name:

N/A

Extinction Coefficient:

Buffers:

Expressed Sequence:

IAAGEVIQRPANAIK

Native Sequence:

Calculated Isoelectric Point:

Molecular Weight:

1650

Last Updated:

09/02/2020

Links

Characterization Data

SOPs

No SOPs available.

Don't have Adobe Reader™?

Get it for free at Adobe.com