Overview

  • Product name
    Recombinant Human ABCD1 protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Molecular weight
      20 kDa
    • Amino acids
      560 to 737
    • Tags
      His-DHFR tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab127510 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
    • ABC42
    • Abcd1
    • ABCD1_HUMAN
    • Adrenoleukodystrophy protein
    • ALD
    • Aldgh
    • ALDP
    • AMN
    • ATP binding cassette, sub family D (ALD), member 1
    • ATP-binding cassette sub-family D member 1
    • OTTHUMP00000025960
    • OTTMUSP00000019283
    • RGD1562128
    • RP23 373N8.2
    • X linked adrenoleukodystrophy (ALD) gene homolog
    see all
  • Function
    Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.
  • Involvement in disease
    Defects in ABCD1 are the cause of adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]. X-ALD is a peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.
    Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31.
  • Sequence similarities
    Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
    Contains 1 ABC transmembrane type-1 domain.
    Contains 1 ABC transporter domain.
  • Cellular localization
    Peroxisome membrane.
  • Information by UniProt

References for Recombinant Human ABCD1 protein (ab127510)

ab127510 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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