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Product Name Anti-MLH3/AF594 Chinese Name AF594标记的错配修复蛋白3抗体 Alias DNA mismatch repair protein Mlh3; HNPCC 7; HNPCC; HNPCC7; MGC138372; Mismatch repair gene MLH 3; Mismatch repair gene MLH3; MLH 3; MLH3; MLH3_HUMAN; MutL homolog 3 (E. coli); MutL homolog 3; MutL protein homolog 3; S240II117. Research Area Cell biology Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species Human, Applications ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Molecular weight 164kDa Form Lyophilized or Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human MLH3 Lsotype IgG Purification affinity purified by Protein A Storage Buffer 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. Product Detail background:
This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
Function:
Probably involved in the repair of mismatches in DNA.
Subcellular Location:
Nucleus.
Tissue Specificity:
Ubiquitous.
DISEASE:
Defects in MLH3 are the cause of hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:614385]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.
Defects in MLH3 are a cause of colorectal cancer (CRC) [MIM:114500].
Similarity:
Belongs to the DNA mismatch repair mutL/hexB family.
Database links:Entrez Gene: 27030 Human
Entrez Gene: 217716 Mouse
GenBank: NP_055196 Human
Omim: 604395 Human
SwissProt: Q9UHC1 Human
Unigene: 436650 Human
Unigene: 311981 Mouse
Unigene: 119254 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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