Common Name:	ABC7
HGNC Symbol:	ABCB7
HGNC Description:	ATP-binding cassette, sub-family B (MDR/TAP), member 7
HGNC ID:	48
Chromosome:	Chr.X(-): 74189830-74292857
Location:	Xq12-q13
OMIM:	300135
OMIM Phenotype:	Anemia, sideroblastic, and spinocerebellar ataxia
Accessions:	AF038950.1, AB005289.1
Nucleotide RefSeq:	NM_004299
Protein RefSeq:	NP_004290
Entrez:	22
Isoforms:	1
Evidence:	Substrate In Vitro Evidence: 1. Transient expression of ANC7 n mouse embryo liver BNL-CL2 cells resulted in an increase in the level and activity of ferrochelatase (the last enzyme in the pathway to synthesize heme) and thioredoxin (a cytosolic protein containing Fe/S). ABC7 expression therefore contributes to the production of heme during the differentiation of erythroid cells. Taketani, S et al. Blood 2003 Apr 15, 101(8):3274-80 PMID 12480705. Substrate In Vivo Evidence: 1. A SNP (I400M) in ABC7 was linked with X-linked sideroblastic anemia and ataxia (XLSA/A), a recessive disorder characterized by onset of non-progressive cerebellar ataxia and mild anemia. Allikmets, R et al. Hum Mol Genet. 8(5):743-9 PMID 10196363. 2. ABC7 plays a central role in the maturation of cytosolic iron-sulfur cluster-containing proteins. Bekri, S et al. Blood 2000 Nov 1, 96(9):3256-64 PMID 11050011. Tissue Distribution Evidence: 1. Targeting signal indicates that the ABC7 gene product is likely to be located in the mitochondrial inner membrane. Shimada, Y et al. J Hum Genet 1998, 43(2):115-22 PMID 9621516.
Tissues:	mitochondrial inner membrane
Type:	protein coding
Sets:	II
PharmGKB ID:	PA24389
HPRD ID:	02137
Substrates:	iron?
Trivial Names:	ABC7, ASAT, Atm1p, EST140535
Transcripts:	NM_004299 [Chr.X(-): 74189830-74292857]

ABCB7 Resequencing

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.