Overview

  • Product name

    Recombinant Human ALG1 protein
  • Protein length

    Protein fragment

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Molecular weight

      29 kDa
    • Amino acids

      211 to 462
    • Tags

      His-DHFR tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab127253 in the following tested applications.

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

  • Applications

    SDS-PAGE

  • Form

    Lyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at -20ºC.

    Constituents: 0.32% Tris HCl, 0.58% Sodium chloride

  • Reconstitution
    Reconstitute with water to desired concentration.

General Info

  • Alternative names

    • 4-mannosyltransferase
    • Alg1
    • ALG1_HUMAN
    • asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)
    • asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)
    • Asparagine-linked glycosylation protein 1 homolog
    • Beta 1 4 mannosyltransferase
    • Beta-1
    • CDG1K
    • Chitobiosyldiphosphodolichol beta-mannosyltransferase
    • GDP Man GlcNAc2 PP dolichol mannosyltransferase
    • GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase
    • GDP-mannose-dolichol diphosphochitobiose mannosyltransferase
    • Hmat-1
    • HMAT1
    • HMT 1
    • HMT1
    • Mannosyltransferase 1
    • Mannosyltransferase-1
    • MT 1
    • MT-1
    • MT1
    see all
  • Function

    Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER.
  • Pathway

    Protein modification; protein glycosylation.
  • Involvement in disease

    Defects in ALG1 are the cause of congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
  • Sequence similarities

    Belongs to the glycosyltransferase 1 family.
  • Cellular localization

    Endoplasmic reticulum membrane.
  • Information by UniProt

References

ab127253 has not yet been referenced specifically in any publications.

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