NP_001258625.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
78,160 Da
NCBI Official Full Name
ATP-binding cassette sub-family B member 7, mitochondrial isoform 2
NCBI Official Synonym Full Names
ATP-binding cassette, sub-family B (MDR/TAP), member 7
NCBI Protein Information
ATP-binding cassette sub-family B member 7, mitochondrial
UniProt Protein Name
ATP-binding cassette sub-family B member 7, mitochondrial
UniProt Synonym Protein Names
ATP-binding cassette transporter 7; ABC transporter 7 protein
UniProt Synonym Gene Names
UniProt Entry Name
ABCB7_HUMAN
NCBI Summary for ABCB7
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
UniProt Comments for ABCB7
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.
Protein type: Transporter; Transporter, ABC family; Mitochondrial; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: Xq13.3
Cellular Component: mitochondrion; mitochondrial inner membrane; integral to membrane
Molecular Function: ATPase activity, coupled to transmembrane movement of substances; heme transporter activity; ATP binding
Biological Process: heme transport; cellular iron ion homeostasis; transport; transmembrane transport
Disease: Anemia, Sideroblastic, And Spinocerebellar Ataxia
Research Articles on ABCB7
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Products associated with anti-ABCB7 antibody
Pathways associated with anti-ABCB7 antibody
Diseases associated with anti-ABCB7 antibody
Organs/Tissues associated with anti-ABCB7 antibody
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