Product Name	PMS1
Chinese Name	Tumour错配修复基因PMS1抗体
Alias	DNA mismatch repair protein PMS1; HNPCC3; hPMS1; Human homolog of yeast mutL; Mismatch repair gene PMSL1; pms1; PMS1 postmeiotic segregation increased 1 (S. cerevisiae); PMS1 postmeiotic segregation increased 1; PMS1 protein homolog 1; PMS1_HUMAN; PMSL1; Rhabdomyosarcoma antigen MU RMS 40.10B; Rhabdomyosarcoma antigen MU RMS 40.10E.
Research Area	Tumour  Cell biology  immunology  Epigenetics
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Cow, Horse, Sheep, )
Applications	WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	106kDa
Cellular localization	The nucleus
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human PMS1: 245-350/932
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	The finding that mutations in DNA mismatch repair genes are associated with hereditary nonpolyposis colorectal cancer (HNPCC) has resulted in considerable interest in the understanding of the mechanism of DNA mismatch repair. Initially, inherited mutations in the MSH2 and MLH1 homologs of the bacterial DNA mismatch repair genes MutS and MutL were demonstrated at high frequency in HNPCC and were shown to be associated with microsatellite instability. The demonstration that 10 to 45% of pancreatic, gastric, breast, ovarian and small cell lung cancers also display microsatellite instability has been interpreted to suggest that DNA mismatch repair is not restricted to HNPCC tumors but is a common feature in tumor initiation or progression. Two additional homologs of the prokaryotic MutL gene, designated PMS1 and PMS2, have been identified and shown to be mutated in the germline of HNPCC patients. Function: Probably involved in the repair of mismatches in DNA. Subunit: The MutL-beta complex is a heterodimer of PMS1 and MLH1. Subcellular Location: Nucleus. DISEASE: Defects in PMS1 are the cause of hereditary non-polyposis colorectal cancer type 3 (HNPCC3) [MIM:600258]. 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. Similarity: Belongs to the DNA mismatch repair MutL/HexB family. Contains 1 HMG box DNA-binding domain. SWISS: P54277 Gene ID: 5378 Database links: Entrez Gene: 5378 Human Entrez Gene: 227099 Mouse Entrez Gene: 494322 Rat NCBI: 4505911 Human Omim: 600258 Human SwissProt: P54277 Human Unigene: 111749 Human Unigene: 60499 Mouse Unigene: 47945 Rat

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