Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      KELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYT SKINSHEDLENLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDG SGHILSQKPS
    • Amino acids
      26 to 135
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab159148 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • DNA mismatch repair protein PMS1
    • FLJ98259
    • HNPCC3
    • hPMS1
    • Human homolog of yeast mutL
    • Mismatch repair gene PMSL1
    • pms1
    • PMS1 postmeiotic segregation increased 1
    • PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
    • PMS1 protein homolog 1
    • PMS1_HUMAN
    • PMSL1
    • Rhabdomyosarcoma antigen MU RMS 40.10B
    • Rhabdomyosarcoma antigen MU RMS 40.10E
    see all
  • Function
    Probably involved in the repair of mismatches in DNA.
  • Involvement in 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.
  • Sequence similarities
    Belongs to the DNA mismatch repair mutL/hexB family.
    Contains 1 HMG box DNA-binding domain.
  • Cellular localization
    Nucleus.
  • Information by UniProt

Images

  • ab159148 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab159148 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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