MLH1 Antibody

Datasheet
Code CSB-PA236767
Size US$299
Uniprot No. P40692
Image
  • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA236767(MLH1 Antibody) at dilution 1/65, on the right is treated with fusion protein. (Original magnification: ×200)
Protocols ELISA Protocol
Immunohistochemistry (IHC) Protocol
Immunogen Fusion protein of Human MLH1
Raised in Rabbit
Species Reactivity Human,Mouse,Rat
Tested Applications ELISA,IHC;ELISA:1:2000-1:5000,IHC:1:50-1:200
Relevance This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.
Form Liquid
Conjugate Non-conjugated
Storage Buffer -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Purification Method Antigen affinity purification
Isotype IgG
Alias mutL homolog 1
Immunogen Species Homo sapiens (Human)
Target Names MLH1
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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Function 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-MSH6) 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.
Involvement in disease Hereditary non-polyposis colorectal cancer 2 (HNPCC2); Mismatch repair cancer syndrome (MMRCS); Muir-Torre syndrome (MRTES); Endometrial cancer (ENDMC); Colorectal cancer (CRC)
Subcellular Location Nucleus
Protein Families DNA mismatch repair MutL/HexB family
Tissue Specificity Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.
Database Links

HGNC: 7127

OMIM: 114500

KEGG: hsa:4292

STRING: 9606.ENSP00000231790

UniGene: Hs.195364

Pathway DNA repair pathway

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