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Gene: ABCB7 (ATP binding cassette subfamily B member 7) Homo sapiens
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Symbol: ABCB7
Name: ATP binding cassette subfamily B member 7
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC transporter 7 protein; ABC7; ASAT; Atm1p; ATP-binding cassette 7; ATP-binding cassette sub-family B member 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; EST140535
Orthologs:
Mus musculus (house mouse) : Abcb7 (ATP-binding cassette, sub-family B (MDR/TAP), member 7)  MGI  Alliance
Rattus norvegicus (Norway rat) : Abcb7 (ATP binding cassette subfamily B member 7)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Abcb7 (ATP binding cassette subfamily B member 7)
Pan paniscus (bonobo/pygmy chimpanzee) : ABCB7 (ATP binding cassette subfamily B member 7)
Canis lupus familiaris (dog) : ABCB7 (ATP binding cassette subfamily B member 7)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Abcb7 (ATP binding cassette subfamily B member 7)
Sus scrofa (pig) : ABCB7 (ATP binding cassette subfamily B member 7)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X75,053,280 - 75,156,340 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X74,273,007 - 74,376,175 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X74,189,830 - 74,292,857 (-)NCBINCBI36hg18NCBI36
Build 34X74,056,127 - 74,159,153NCBI
CeleraX74,556,536 - 74,659,552 (-)NCBI
Cytogenetic MapXq13.3NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBIHuRef
CHM1_1X74,165,916 - 74,269,046 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ABCB7
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1351480
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.