Name: GTBP Monoclonal Antibody
SKU: WM0229
Price: 268 USD
Availability: InStock

Product details

Background:
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013],

Specifications

Size	50μL/100μL
Target	MSH6
Reactivity	Human
Applications	WB, ELISA
MW(Calculated)	153kD
MW(Observed)
Host Species	Mouse
Isotype
Conjugate/Modification	Unmodified
Recommended Dilution Ratio	WB 1:500-1:2000; ELISA 1:10000; Not yet tested in other applications.
Formulation	Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Purification	Affinity purification
Storage	-15°C to -25°C/1 year(Do not lower than -25°C)
Concentration
Clonality	Monoclonal
Clone Number	9G5
Immunogen	Purified recombinant fragment of human GTBP expressed in E. Coli.
Specificity	GTBP Monoclonal Antibody detects endogenous levels of GTBP protein.
Gene Name	MSH6
Protein Name	DNA mismatch repair protein Msh6
Other Name	MSH6; / GTBP; / DNA mismatch repair protein Msh6; / hMSH6; / G/T mismatch-binding protein; / GTBP; / GTMBP; / MutS-alpha 160 kDa subunit; / p160
Species	Human
Gene ID	2956
Uniprot	P52701,
Species.1	Mouse
Gene ID.1
Uniprot.1	P54276
Species.2
Gene ID.2
Uniprot.2
Cellular Localization	Nucleus . Chromosome . Associates with H3K36me3 via its PWWP domain.
Tissue Expression	Epithelium,Placenta,Pooled,Testis,
Signaling_pathway	Human Diseases >> Cancer: overview >> Pathways in cancer;Human Diseases >> Cancer: specific types >> Colorectal cancer
Research Areas	>>Platinum drug resistance; / >>Mismatch repair; / >>Pathways in cancer; / >>Colorectal cancer
Function	Disease:Defects in MSH6 are a cause of susceptibility to endometrial cancer [MIM:608089].,Disease:Defects in MSH6 are the cause of hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:600678]. 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. 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. MSH6 mutations appear to be associated with atypical HNPCC and in particular with development of endometrial carcinoma or atypical endometrial hyperplasia, the presumed precursor of endometrial cancer. Defects in MSH6 are also found in familial colorectal cancers (suspected or incomplete HNPCC) that do not fulfill the Amsterdam criteria for HNPCC.,Function:Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair.,PTM:Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,PTM:The N-terminus is blocked.,similarity:Belongs to the DNA mismatch repair mutS family.,similarity:Contains 1 PWWP domain.,subunit:Heterodimer consisting of MSH2-MSH6 (MutS alpha). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATR.,

Please login to post questions

GTBP Monoclonal Antibody

Product details

Specifications

About Us

Support

Order

Menu

GTBP Monoclonal Antibody

Product details

Specifications

Related products

U-Blot® CDK6 Rabbit mAb

U-Blot® Ezrin Rabbit mAb

U-Blot® Cyclin B1 (Phospho Ser126) Rabbit mAb

U-Blot® α smooth muscle actin Rabbit mAb

U-Blot™ SSPE buffer, pH 7.4

U-Blot® PMS2 Rabbit mAb

Customer Reviews

Menu