ATP-binding cassette sub-family B member 6, mitochondrial; mitochondrial ABC transporter 3; Mt-ABC transporter 3; ubiquitously-expressed mammalian ABC half transporter; P-glycoprotein-related protein (ABCB6, MTABC3, PRP, UMAT)

Function

• role in heme synthesis
• binds heme & porphyrins & functions in their ATP-dependent uptake into the mitochondria
• depletion of Abcb6 by RNAi abrogates heme biosynthesis
• overexpression enhances porphyrin biosynthesis

Structure

• homodimer
• belongs to the ABC transporter family, heavy metal importer (TC 3.A.1.210) subfamily
• contains 1 ABC transmembrane type-1 domain
• contains 1 ABC transporter domain

Compartment

mitochondrial outer membrane

Alternative splicing

named isoforms=2

Expression

• widely expressed
• highest expression in heart & skeletal muscles
• highly expressed in fetal liver
• up-regulated by cellular porphyrins (at protein level)

Pathology

• dyschromatosis universalis hereditaria-3 is caused by mutation in the ABCB6 gene on chromosome 2q35

More general terms

• ATP-binding cassette sub-family B (ABC transporter-B, ABCB)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1005
• OMIM: https://mirror.omim.org/entry/605452
• UniProt: http://www.uniprot.org/uniprot/Q9NP58.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=10058