Products

Western Blot (Tissue lysate)

ABCD2 polyclonal antibody (Cat # PAB25454) (1 ug/mL) staining of human liver lysate (35 ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.

Enzyme-linked Immunoabsorbent Assay

Entrez GeneID

225

Protein Accession#

NP_005155.1

Gene Name

ABCD2

Gene Alias

ABC39, ALDL1, ALDR, ALDRP, hALDR

Gene Description

ATP-binding cassette, sub-family D (ALD), member 2

Omim ID

601081

Gene Ontology

Hyperlink

Gene Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq

Other Designations

ATP-binding cassette, sub-family D, member 2|adrenoleukodystrophy-like 1