ATP-binding cassette sub-family D member 3 (70 kD peroxisomal membrane protein, ABCD3, PMP70, PXMP1)

Function

• probable transporter
• the nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity
• can form heterodimers with ABCD1/ALD & ABCD2/ALDR
• dimerization is necessary to form an active transporter
• interacts with PEX19

Structure

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

Compartment

peroxisome membrane

Alternative splicing

named isoforms=3

Pathology

• defects in ABCD3 may be the cause of Zellweger syndrome type 2

More general terms

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

Database

• UniProt: http://www.uniprot.org/uniprot/P28288.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5825
• OMIM: https://mirror.omim.org/entry/170995
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5825