Overview

  • Product name
    Recombinant Human POMT1 protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      LPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPA QVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIA
    • Amino acids
      483 to 580
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab161055 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
    • Dolichyl phosphate mannose protein mannosyltransferase 1
    • Dolichyl phosphate mannose protein mannosyltransferase1
    • Dolichyl-phosphate-mannose--protein mannosyltransferase 1
    • LGMD2K
    • MDDGA1
    • MDDGB1
    • MDDGC1
    • POMT 1
    • POMT1
    • POMT1_HUMAN
    • Protein O mannosyl transferase 1
    • Protein O mannosyl transferase1
    • Protein O-mannosyl-transferase 1
    • Rotate abdomen, Drosophila, homolog of
    • RT
    see all
  • Function
    Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.
  • Tissue specificity
    Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.
  • Pathway
    Protein modification; protein glycosylation.
  • Involvement in disease
    Defects in POMT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155]; also called muscular dystrophy congenital POMT1-related. MDDGB1 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.
    Defects in POMT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670]; also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. MDDGA1 is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
    Defects in POMT1 are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C1 (MDDGC1) [MIM:609308]; also called autosomal recessive limb-girdle muscular dystrophy with mental retardation. MDDGC1 is a novel form of recessive limb girdle muscular dystrophy with mild mental retardation without any obvious structural brain abnormality, associated with an abnormal alpha-dystroglycan pattern in the muscle. MDDGC1 is a significantly milder allelic form of WWS.
  • Sequence similarities
    Belongs to the glycosyltransferase 39 family.
    Contains 3 MIR domains.
  • Cellular localization
    Endoplasmic reticulum membrane.
  • Information by UniProt

Images

  • ab161055 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab161055 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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