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Protein: ABCB6_HUMAN

ATP-binding cassette sub-family B member 6, mitochondrial

FUNCTION: Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. more...

SUBUNIT: Homodimer.

SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein.

ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP58-1; Sequence=Displayed; Name=2; IsoId=Q9NP58-4; Sequence=VSP_021973; Note=Ref.4 (BAB71347) sequence differs from that shown due to splicing through aberrant splice sites;

TISSUE SPECIFICITY: Widely expressed. Highest expression in heart and skeletal muscles. DEVELOPMENTAL STAGE: Highly expressed in fetal liver.

INDUCTION: Up-regulated by cellular porphyrins (at protein level). MISCELLANEOUS: Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis.

SIMILARITY: Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.

SIMILARITY: Contains 1 ABC transmembrane type-1 domain.

SIMILARITY: Contains 1 ABC transporter domain.

SEQUENCE CAUTION: Sequence=AAG33617.1; Type=Erroneous initiation; Sequence=AAG33618.1; Type=Erroneous initiation; Sequence=AAH43423.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAD18782.1; Type=Erroneous termination; Positions=168; Note=Translated as Trp; Sequence=BAD92291.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;

GENE SYNONYMS: MTABC3 PRP UMAT.

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

 

Organism:

  • Homo sapiens

Gene Symbol:

  • ABCB6

Synonyms:

  • P-glycoprotein-related protein
  • Ubiquitously-expressed mammalian ABC half transporter
  • Mitochondrial ABC transporter 3
  • Mt-ABC transporter 3

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