产品名称
PMS1 Rabbit Polyclonal Antibody
别名
PMS1; PMSL1; PMS1 protein homolog 1; DNA mismatch repair protein PMS1
蛋白名称
PMS1 protein homolog 1
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5378
Human Swissprot No.
P54277
Human Swissprot Link
http://www.uniprot.org/uniprotkb/P54277/entry
免疫原
The antiserum was produced against synthesized peptide derived from human PMS1. AA range:441-490
特异性
PMS1 Polyclonal Antibody detects endogenous levels of PMS1 protein.
稀释度
WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:10000.. IF 1:50-200
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008],
组织表达
Embryonal rhabdomyosarcoma,Gall bladder,PCR rescued clones,
功能
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.,function:Probably involved in the repair of mismatches in DNA.,similarity:Belongs to the DNA mismatch repair mutL/hexB family.,similarity:Contains 1 HMG box DNA-binding domain.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.