ABCB7 Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins. Defects in ABCB7 are the cause of X-linked sideroblastic anemia with ataxia (ASAT). ASAT is a recessive disorder characterized by an infantile to early childhood onset of nonprogressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter; Transporter, ABC family
Chromosomal Location of Human Ortholog: X D|X 46.58 cM
Cellular Component:  integral component of membrane; membrane; mitochondrial inner membrane
Molecular Function:  ATP binding; ATPase activity; ATPase activity, coupled to transmembrane movement of substances; nucleotide binding
Biological Process:  cellular iron ion homeostasis; transmembrane transport
Reference #:  Q61102 (UniProtKB)
Alt. Names/Synonyms: AA517758; ABC transporter 7 protein; Abc7; Abcb7; ATP-binding cassette 7; ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ATP-binding cassette, sub-family B (MDR/TAP), member 7; AU019072
Gene Symbols: Abcb7
Molecular weight: 82,581 Da
Basal Isoelectric point: 9.36  Predict pI for various phosphorylation states
Select Structure to View Below

ABCB7

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene