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ABCB7 Gene

protein-coding GIFtS: 65

GC0XM074189

ATP-binding cassette, sub-family B (MDR/TAP), member 7
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ABC7)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ABC7 ^², ³, ⁵
ASAT ^¹, ², ⁵
Atm1p ^¹, ²
EST140535 ^¹, ²
OTTHUMP00000023578 ^²

Descriptions
ABC transporter 7 protein ^³
ATP-binding cassette 7 ^²
ATP-binding cassette transporter 7 ^³
ATP-binding cassette, sub-family B (MDR/TAP), member 7 ^²
ATP-binding cassette, sub-family B, member 7 ^²

External Ids
HGNC: 48¹
Entrez Gene: 22²
UniProtKB: O75027³
Ensembl: ENSG00000131269⁷

Search outside databases for aliases for ABCB7 gene

Previous GC identifers: GC0XM070074 GC0XM071447 GC0XM072487 GC0XM073139 GC0XM074056

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene 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 implicated in X-linked sideroblastic anemia with

ataxia. [provided by RefSeq]

UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027

Function: 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

Gene Wiki entry for ABCB7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ABCB7 gene

Entrez Gene cytogenetic band: Xq12-q13 Ensembl cytogenetic band: Xq13.3 HGNC cytogenetic band: Xq13.3

ABCB7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM074189: (about GC identifiers)

Start:	74,189,830 bp from pter
End:	74,292,857 bp from pter
Size:	103,028 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011669.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027 (See protein sequence)

Recommended Name: ATP-binding cassette sub-family B member 7, mitochondrial precursor

Size: 752 amino acids; 82641 Da

Subunit: Homodimer or heterodimer (Potential)

Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (Potential)

Secondary accessions: O75345 Q5VWY7 Q5VWY8 Q9BRE1 Q9UND1 Q9UP01

Alternative splicing: 2 isoforms: O75027-1 O75027-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_004290.2

ENSEMBL proteins:

ENSP00000343849 ENSP00000253577 ENSP00000362492

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ABCB7)
	Human Recombinant Proteins from Abnova (ABCB7)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--
GO:0005743	mitochondrial inner membrane	TAS	10196363
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

About this table

Antibodies for ABCB7:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ABCB7), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ABCB7)
	Search Novus for antibodies for ABCB7

Assays for ABCB7:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry O75027

ProtoNet protein and cluster: O75027

UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027

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

Similarity: Contains 1 ABC transmembrane type-1 domain

Similarity: Contains 1 ABC transporter domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCB7)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCB7)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004299

Applied Biosystems Silencer® siRNAs for ABCB7

Sigma-Aldrich siRNA and siRNA Panels for ABCB7

Sigma-Aldrich shRNA for ABCB7

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ABCB7
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_004299
Myc/DDK tagged cDNA clone in CMV expression vector: NM_004299
untagged cDNA clone in CMV expression vector: NM_004299

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_004299

UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027

Function: 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

Genatlas biochemistry entry for ABCB7:

ATP binding cassette superfamily,subfamily B (MDR/TAP),member 7,mouse ABC7 and yeast Atm1p

homolog,ubiquitously expressed,located in the mitochondrial inner membrane

11 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Abcb7):

	cellular	embryogenesis	growth/size	homeostasis/metabolism
lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	liver/biliary system	nervous system
other

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005524	ATP binding	TAS	9621516
GO:0015232	heme transporter activity	TAS	9621516
GO:0016887	ATPase activity	IEA	--
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	TAS	9621516

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for ABCB7

3 Interacting proteins for ABCB7 (ENSP00000253577³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ALAS2	ENSP00000332369³	STRING (score=.87)
TXN	ENSP00000363641³	STRING (score=.847)
FECH	ENSP00000372326³	STRING (score=.78)

About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	9621516
GO:0006879	cellular iron ion homeostasis	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ABCB7
10/28 Novoseek chemical compound relationships for ABCB7 gene (see all 28 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
urea	44.38	14	1803931 (2), 15844399 (2), 8378031 (2), 16896724 (1) (see all 11)
uric acid	41.65	11	8378031 (3), 17590199 (1), 17913676 (1), 16638699 (1) (see all 9)
cholesterol	40.53	17	8766592 (2), 1771866 (2), 8097894 (1), 16138865 (1) (see all 13)
iron	27.65	13	12480705 (3), 10196363 (2), 19046159 (1), 17913676 (1) (see all 9)
iron-sulfur	27.36	3	12480705 (3)
ethanol	20.00	1	1287266 (1)
magnesium	17.71	7	8378031 (2), 1780819 (1), 1443440 (1), 17493165 (1) (see all 6)
protoporphyrin ix	14.76	1	11843825 (1)
sodium	12.55	6	17913676 (1), 17494297 (1), 10584179 (1), 1441715 (1) (see all 6)
glucose	12.53	13	1803931 (3), 8941472 (2), 17913676 (1), 15534665 (1) (see all 10)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCB7)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCB7)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004299

Sigma-Aldrich siRNA and siRNA Panels for ABCB7

Sigma-Aldrich shRNA for ABCB7

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_004299

REFSEQ mRNAs for ABCB7 gene:

NM_004299.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_004299

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004299
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_004299
                                 untagged cDNA clone in CMV expression vector: NM_004299

Additional cDNA sequence:

AF038950.1 AF078777.1 AF133659.1 AK001418.1 AK294657.1 AK307414.1 BC006323.2 BT009918.1

BX537833.1 BX648420.1 CR612563.1 U66679.1

15 DOTS entries:

DT.448190 DT.92034779 DT.91740872 DT.121279798 DT.92003533 DT.95200092 DT.100742050 DT.102828440

DT.100668417 DT.121279779 DT.121279792 DT.65288079 DT.91740870 DT.91837463 DT.75107232

24/141 AceView cDNA sequences (see all 141 ):

AA282065 CA418036 AA363683 BP381710 BT009918 AA767655 AA305099 AI128014

BF108755 NM_004299 CR612563 BF001423 AK001418 AW271773 AA974072 BM662767

AI338551 BX355370 AA226777 AA403130 CA314242 F34862 BM975299 BX537833

highest scoring ESTs for ABCB7:

AA226777 AA282065 AA305099 AA732107 AA766839 AA810091 AA810484 AA815080 AA923765 AA971952

Unigene Cluster for ABCB7:

ATP-binding cassette, sub-family B (MDR/TAP), member 7

Hs.370480 [show with all ESTs]

Unigene Representative Sequence: BX648420

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCB7

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9a	·	9b	^	10	^	11	^	12	^	13a	·	13b	·	13c	^	14	^	15	^	16a	·	16b
SP1:																							-
SP2:																							-
SP3:											-												-
SP4:
SP5:																							-								-		-

About this scheme

ECgene alternative splicing isoforms for ABCB7

3 Ensembl transcripts including schematic representations:

ENST00000339447 ENST00000253577 ENST00000373394

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ABCB7 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ABCB7

¹ / ² / ³

3 probe-sets matching ABCB7 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
41681_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AB005289	0.80	1.00	0.91	1
209620_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AB005289	0.80	1.00	0.91	1
209620_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ABCB7 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: ATAACCCCAA

SOURCE GeneReport for Unigene cluster: Hs.370480
Expression variation in blood from EXPOLDB for ABCB7

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ABCB7 gene from 5/23 species (see all 23 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ABCB7¹	--	ATP-binding cassette, sub-family B (MDR/TAP), member more	92.69(n) 92.69(a)	491967 XM_549087.2 XP_549087.1
cow (Bos taurus)	ABCB7¹	--	ATP-binding cassette, sub-family B (MDR/TAP), member more	94.73(n) 94.97(a)	533669 XM_613148.3 XP_613148.2
rat (Rattus norvegicus)	Abcb7¹	--	ATP-binding cassette, sub-family B (MDR/TAP), member more	90.03(n) 92.55(a)	302395 NM_212518.1 NP_997683.1
mouse (Mus musculus)	Abcb7⁵	X (39.00 cM)	ATP-binding cassette, sub-family B (MDR/TAP), member more	--	U43892
chicken (Gallus gallus)	ABCB7¹	--	ATP-binding cassette, sub-family B (MDR/TAP), member more	79.41(n) 83.33(a)	422326 XM_420301.2 XP_420301.1

About this table Species with no ortholog for ABCB7

ENSEMBL Gene Tree for ABCB7

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ABCB7 gene

ABCB6²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/328 NCBI SNPs in ABCB7 are shown (see all 328 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 112)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs5981781^1,2	A,C,F,H	74292921(+)	`TTCTTG/CTTTTC`	1	--	ng3¹		4	EU EA WA	412
--	rs5937966^1,2	A,C,F,H	74293488(+)	`acacaC/GaGAGA`	1	--	ng3¹		4	EU EA WA	412
	rs6655627^1,2	A,C,F,H	74294771(+)	`CGTGAG/AGCATA`	1	--	ng3¹		7	EU EA WA NA	535
	rs5937967^1,2	A,C,F,H	74293810(+)	`AGACAA/CATAAT`	1	--	ng3¹		4	EU EA WA	412
	rs5981325^1,2	C,F,H	74293145(+)	`atcatT/Ctcttc`	1	--	ng3¹		8	EU EA WA	628
	rs16991852^1,2	C,F,H	74189491(+)	`TTCAAT/CTGGAC`	1	--	ng5¹		7	NA EU EA WA	530
--	rs1340989^1,2	C,F	74201722(-)	`GTATGC/TAGTGG`	1	A/V	mis¹ ese³		8	EA NA MN EU WA	504
	rs1054913^1,2	H	74212004(-)	`AACAAG/AGGGTA`	1	K/R	mis¹		4	EU EA WA	406
--	rs1340990^1,2	C,F,H	74201721(-)	`TATGCA/GGTGGC`	1	A/A	syn¹ ese³		12	NA EA MN EU WA	1033
	rs6647636^1,2	A,C,F,H	74258084(+)	`ttgttG/Cctgtg`	1	--	int¹		4	EU EA WA	418

About this table

HapMap Linkage Disequilibrium images for ABCB7 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300135 disorders: 301310

UniProtKB/Swiss-Prot: ABCB7_HUMAN, O75027

Defects in ABCB7 are the cause of X-linked sideroblastic anemia with ataxia (ASAT)

[MIM:301310]. ASAT is a recessive disorder characterized by an infantile to early childhood onset

of nonprogressive cerebellar ataxia and mild anemia with hypochromia and microcytosis

10/47 Novoseek disease relationships for ABCB7 gene (see all 47 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
anemia sideroblastic	78.31	7	12938016 (1), 12480705 (1), 15506716 (1), 18398482 (1) (see all 6)
anemia congenital sideroblastic	73.11	1	16870250 (1)
liver diseases	58.09	4	8266011 (1), 11594118 (1), 1350376 (1), 7916242 (1)
alcohol abuse	54.39	2	9547899 (1), 1350376 (1)
hepatitis chronic active	47.69	2	9144972 (2)
hepatomegaly	44.36	2	7987443 (1), 9014018 (1)
alcoholism	41.62	2	7674678 (1), 10798586 (1)
liver damage	40.27	2	1803931 (1), 11875752 (1)
fatty liver	38.14	2	11063160 (1)
hepatitis	36.48	5	17059345 (1), 1407210 (1), 1305279 (1), 10052474 (1) (see all 5)

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1 PharmGKB disease relationship for ABCB7 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12730115

About this table

GeneTests: ABCB7

X-Linked Sideroblastic Anemia and Ataxia

Human Gene Mutation Database: ABCB7
Human Genome Epidemiology Navigator: ABCB7 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/206 PubMed articles for ABCB7 gene (see all 206 ):

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. (PubMed id 11050011)^{1, 3, 4} Bekri S....Bishop D.F. (2000)
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. (PubMed id 11843825)^{1, 3, 4} Maguire A.... May A. (2001)
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (PubMed id 10196363)^{1, 3, 4} Allikmets R....Koeller D.M. (1999)
Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. (PubMed id 9143506)^{1, 2, 3} Savary S....Chimini G. (1997)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{3, 4} Ross M.T.... Bentley D.R. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PubMed id 9653160)^{3, 4} Mao M....Chen Z. (1998)
Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. (PubMed id 9883897)^{3, 4} Csere P.... Kispal G. (1998)
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. (PubMed id 9621516)^{3, 4} Shimada Y....Takahashi E. (1998)
Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. (PubMed id 12480705)^{1, 3} Taketani S....Furukawa T. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 22	HGNC: 48	AceView: ABCB7	Ensembl:ENSG00000131269	euGenes: HUgn22
ECgene: ABCB7	H-InvDB: ABCB7

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=ABCB7

Licensable Technologies for ABCB7
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ABCB7:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ABCB7-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ABCB7		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ABCB7		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ABCB7)
	Antibodies (ABCB7)
	Chimera RNAi (ABCB7)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (ABCB7)
	Antibodies (ABCB7)

Search OriGene for ABCB7

Search Tocris compounds for ABCB7

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for ABCB7

GeneCards Homepage - Last full update: 1 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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ABCB7 Gene at Home site.
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ABCB7 Gene

protein-coding GIFtS: 65

Aliases &
Descriptions
for ABCB7

Summaries
for ABCB7

Genomic Location
for ABCB7

Proteins
for ABCB7

Protein Domains/
Families
for ABCB7

Gene Function
for ABCB7

Pathways & Interactions
for ABCB7

Drugs & Compounds
for ABCB7

Transcripts
for ABCB7

Expression
for ABCB7

Orthologs
for ABCB7

Paralogs
for ABCB7

SNPs/Variants
for ABCB7

Disorders & Mutations
for ABCB7

Medical News
for ABCB7

Publications
for ABCB7

Search for ABCB7

Genome Databases showing ABCB7

Other Databases showing ABCB7

Specialized Databases showing ABCB7

Licensable Technologies
for ABCB7

Services
for ABCB7

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ABCB7 Gene

protein-coding GIFtS: 65

Aliases & Descriptionsfor ABCB7

Summariesfor ABCB7

Genomic Locationfor ABCB7

Proteinsfor ABCB7

Protein Domains/Familiesfor ABCB7

Gene Functionfor ABCB7

Pathways & Interactionsfor ABCB7

Drugs & Compoundsfor ABCB7

Transcriptsfor ABCB7

Expression for ABCB7

Orthologsfor ABCB7

Paralogsfor ABCB7

SNPs/Variantsfor ABCB7

Disorders & Mutationsfor ABCB7

Medical Newsfor ABCB7

Publicationsfor ABCB7

Search for ABCB7

Genome Databases showing ABCB7

Other Databases showing ABCB7

Specialized Databases showing ABCB7

Licensable Technologiesfor ABCB7

Servicesfor ABCB7

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ABCB7

Summaries
for ABCB7

Genomic Location
for ABCB7

Proteins
for ABCB7

Protein Domains/
Families
for ABCB7

Gene Function
for ABCB7

Pathways & Interactions
for ABCB7

Drugs & Compounds
for ABCB7

Transcripts
for ABCB7

Expression
for ABCB7

Orthologs
for ABCB7

Paralogs
for ABCB7

SNPs/Variants
for ABCB7

Disorders & Mutations
for ABCB7

Medical News
for ABCB7

Publications
for ABCB7

Licensable Technologies
for ABCB7

Services
for ABCB7