ATP-binding cassette sub-family D member 1; adrenoleukodystrophy protein; ALDP (ABCD1, ALD)

Function

• probable transporter
• nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity
• forms heterodimers with ABCD2 & ABCD3/PMP70
• dimerization (homo 9r heterodimer) necessary to form an active transporter
• interacts with PEX1

Structure

• belongs to the ABC transporter family, ALD subfamily
• contains 1 ABC transmembrane type-1 domain
• contains 1 ABC transporter domain

Compartment

peroxisomal membrane

Pathology

• defects in ABCD1 are the cause of X-linked adrenoleukodystrophy
• microdeletions in ABCD1 are involved in the contiguous ABCD1/DXS1375E deletion syndrome (CADDS)

Laboratory

• adrenoleukodystrophy protein in fibroblasts

More general terms

• ATP-binding cassette sub-family D (ABC transporter-D, ABCD)
• membrane protein
• phosphoprotein
• glycoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/P33897.html
• OMIM: https://mirror.omim.org/entry/300100
• OMIM: https://mirror.omim.org/entry/300371
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=215