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ABCD1 Gene

protein-coding GIFtS: 66

GC0XP152643

ATP-binding cassette, sub-family D (ALD), member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ALD)

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

Aliases
ABC42 ^²
ALD ^², ³, ⁵
ALDP ^¹, ², ³
AMN ^¹, ², ⁵
OTTHUMP00000025960 ^²
adrenoleukodystrophy ^¹

Descriptions
ATP-binding cassette, sub-family D (ALD), member 1 ^²
ATP-binding cassette, sub-family D, member 1 ^¹
Adrenoleukodystrophy protein ^², ³

External Ids
HGNC: 61¹
Entrez Gene: 215²
UniProtKB: P33897³
Ensembl: ENSG00000101986⁷

Search outside databases for aliases for ABCD1 gene

Previous GC identifers: GC0XP147127 GC0XP149445 GC0XP150576 GC0XP151458 GC0XP152511

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

EntrezGene summary for ABCD1:

The 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 ALD subfamily, which is involved in peroxisomal import of

fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are

half transporters which require a partner half transporter molecule to form a functional

homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in

the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have

been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively

inherited demyelinating disorder of the nervous system. [provided by RefSeq]

UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897

Function: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with

ATPase activity

Gene Wiki entry for ABCD1

(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 ABCD1 gene

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

ABCD1 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 GC0XP152643: (about GC identifiers)

Start:	152,643,517 bp from pter
End:	152,663,410 bp from pter
Size:	19,894 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.9 NT_011726.13

(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: ABCD1_HUMAN, P33897 (See protein sequence)

Recommended Name: ATP-binding cassette sub-family D member 1

Size: 745 amino acids; 82937 Da

Subunit: Can form homo- and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary

to form an active transporter. Interacts with PEX19

Subcellular location: Peroxisome membrane; Multi-pass membrane protein

Secondary accessions: Q6GTZ2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000024.2

ENSEMBL proteins:

ENSP00000218104 ENSP00000359147

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 (ABCD1, ALDP)
	Human Recombinant Proteins from Abnova (ABCD1)

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005777	peroxisome	IEA	--
GO:0005778	peroxisomal membrane	IEA	--
GO:0005779	integral to peroxisomal membrane	NAS	8441467
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

About this table

Antibodies for ABCD1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of ABCD1
	Sigma-Aldrich Antibodies for ABCD1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ABCD1, ALDP), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ABCD1)
	Novus Biologicals Antibodies for ABCD1

Assays for ABCD1:

	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 P33897

ProtoNet protein and cluster: P33897

1 Blocks protein family: IPB010509 ABC transporter

UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897

Similarity: Belongs to the ABC transporter family. ALD 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 (ABCD1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCD1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000033

Applied Biosystems Silencer® siRNAs for ABCD1

Sigma-Aldrich siRNA and siRNA Panels for ABCD1

Sigma-Aldrich shRNA for ABCD1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ABCD1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000033
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000033
untagged cDNA clone in CMV expression vector: NM_000033

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000033

UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897

Function: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with

ATPase activity

Genatlas biochemistry entry for ABCD1:

ATP-binding cassette superfamily,subfamily D (ALD),member 1,peroxisomal membrane protein,enhancing

the association of very long chain acyl-CoA synthethase with the peroxisome

8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Abcd1):

behavior/neurological	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism	immune system
nervous system	normal	reproductive system

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005215	transporter activity	NAS	8441467
GO:0005524	ATP binding	IEA	--
GO:0016887	ATPase activity	IEA	--
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	NAS	8441467

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 ABCD1

5/32 Interacting proteins for ABCD1 (ENSP00000218104³ P33897¹) via UniProtKB, MINT, and/or STRING (see all 32 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABCD3	P28288¹	STRING (score=.723) EBI-81045, EBI-80992
ABCD1	P33897¹	EBI-81045, EBI-81045
Abcd1 Abcd1 (xeno)	P48410¹	EBI-81045, EBI-81118
Abcd3 Abcd3 (xeno)	P55096¹	EBI-81045, EBI-81160
PEX19	ENSP00000357051³	STRING (score=.994)

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	IEA	--
GO:0007031	peroxisome organization	NAS	8441467
GO:0015919	peroxisomal membrane transport	NAS	8441467

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 ABCD1
10 Novoseek chemical compound relationships for ABCD1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
lignoceric acid	74.99	4	9007322 (2), 9799802 (1)
fatty acid	64.51	21	2015112 (2), 18491823 (1), 9051655 (1), 16223892 (1) (see all 14)
acyl-coa	58.19	3	9173925 (2), 10068511 (1)
manganese superoxide	24.36	1	16319717 (1)
atp	19.64	18	16946495 (3), 12530690 (2), 11248239 (2), 9425230 (1) (see all 10)
lipid	10.11	4	17973979 (1), 2015112 (1), 17881773 (1), 17532287 (1)
forskolin	0.00	1	9610777 (1)
cholesterol	0.00	2	16213491 (1), 17881773 (1)
adp	0.00	1	16946495 (1)
proline	0.00	1	15192815 (1)

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 (ABCD1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCD1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000033

Sigma-Aldrich siRNA and siRNA Panels for ABCD1

Sigma-Aldrich shRNA for ABCD1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000033

REFSEQ mRNAs for ABCD1 gene:

NM_000033.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000033

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000033
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000033
                                 untagged cDNA clone in CMV expression vector: NM_000033

Additional cDNA sequence:

AY421736.1 AY421737.1 AY421738.1 BC015541.1 BC025358.1 CR590818.1 CR599919.1 Z21876.1

9 DOTS entries:

DT.100775286 DT.438401 DT.97780533 DT.91751960 DT.99946409 DT.100698232 DT.121309356 DT.121309416

DT.95174234

24/167 AceView cDNA sequences (see all 167 ):

AA617973 BQ002137 CA395588 BX281679 BQ945290 NM_000033 BQ689178 BQ051707

BQ233874 BE280899 BX382184 BX379103 D31532 Z21876 BM743389 CR599919

BE546548 BF111256 BM744752 BC015541 BC025358 CR590818 BU188300 BM459113

highest scoring ESTs for ABCD1:

AI762804 AA354923 AA617973 AA758000 AI082239 AI356337 AI871975 AL135144 AW960070 BC015541

Unigene Cluster for ABCD1:

ATP-binding cassette, sub-family D (ALD), member 1

Hs.159546 [show with all ESTs]

Unigene Representative Sequence: NM_000033

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCD1

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

About this scheme

ECgene alternative splicing isoforms for ABCD1

2 Ensembl transcripts including schematic representations:

ENST00000218104 ENST00000370129

(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

ABCD1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ABCD1

¹ / ² / ³

4 probe-sets matching ABCD1 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
89043_at²^{, 3}	U95-E	2	1.00	0.94	0.81	1.36	AI762804	1.00	1.00	1.00	1
33603_at²^{, 3}	U95-A	4	1.00	0.42	0.72	0.66	U52111	0.20	0.20	0.20	1
205142_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000033	0.60	1.00	0.82	1
205142_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ABCD1 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: TTCCCAGCTC

SOURCE GeneReport for Unigene cluster: Hs.159546
Expression variation in blood from EXPOLDB for ABCD1

(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 ABCD1 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ABCD1¹	--	ATP-binding cassette, sub-family D (ALD), member 1	89.77(n) 92.6(a)	612520 XM_850248.1 XP_855341.1
cow (Bos taurus)	ABCD1¹	--	ATP-binding cassette, sub-family D (ALD), member 1	88.48(n) 91.53(a)	515178 NM_001046190.1 NP_001039655.1
rat (Rattus norvegicus)	Abcd1¹	--	ATP-binding cassette, sub-family D (ALD), member 1	86.48(n) 91.53(a)	363516 XM_343840.3 XP_343841.1
mouse (Mus musculus)	Abcd1^{1, 5}	X (29.50 cM)⁵	ATP-binding cassette, sub-family D (ALD), member 1^{1, 5}	86.61(n)¹ 92.08(a)¹	11666¹ NM_007435.1¹ NP_031461.1¹ AA007755⁵ AF133093⁵ (see all 19)
zebrafish (Danio rerio)	zgc:172102¹	--	zgc:172102	67.82(n) 69.9(a)	566367 NM_001111186.1 NP_001104656.1

About this table Species with no ortholog for ABCD1

ENSEMBL Gene Tree for ABCD1

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

Paralogs for ABCD1 gene

ABCD3² ENSG00000214330² ABCD4² ABCD2²

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

10/80 NCBI SNPs in ABCD1 are shown (see all 80 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 31)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs6643783^1,2	A,C,H	152663427(+)	`GTGGTG/ATCTGC`	1	--	ng3¹		4		EU EA WA	408
--	rs11803^1,2	A,C,F	152663260(-)	`CCCCTG/AGTGAC`	1	--	ut3¹ ese³		1		MN	184
--	rs6643785^1,2	A,C,F	152663571(+)	`CCCTCC/TGCCGA`	1	--	ng3¹		3		NA	136
--	rs6643784^1,2	A,C	152663461(+)	`GGAGAA/GGGAGT`	1	--	ng3¹		0	--	--	--	--
--	rs2229539^1,2	A,F	152662391(+)	`CAACCC/GTCCCC`	1	--	ut3¹ ese³		1		MN	38
--	rs5945159^1,2	A,C	152663803(+)	`GGAACC/TGGGAG`	1	--	ng3¹		0	--	--	--	--
--	rs5945342^1,2	A,C	152663678(+)	`GGGGAA/GGGGAT`	1	--	ng3¹		0	--	--	--	--
--	rs6643782^1,2	A,C	152663418(+)	`CAGAGC/TCTGGT`	1	--	ng3¹		0	--	--	--	--
--	rs6643643^1,2	A,C,F,H	152659853(+)	`TGTCAA/GGAGGT`	1	--	int¹		7		EU EA WA NA	558
	rs6571292^1,2	A,C,F,H	152650471(+)	`AATAGG/AAATTT`	1	--	int¹		4		EU EA WA	418

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HapMap Linkage Disequilibrium images for ABCD1 (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: 300371 disorders: 300100 300100

UniProtKB/Swiss-Prot: ABCD1_HUMAN, P33897

Defects in ABCD1 are the cause of adrenoleukodystrophy X-linked (X-ALD) [MIM:300100].

X-ALD is a peroxisomal metabolic disorder characterized by progressive multifocal demyelination of

the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results

in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different

clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD),

adrenomyeloneuropathy (AMN) and "Addison disease only" (ADO) phenotype

Microdeletions in ABCD1 are involved in the contiguous ABCD1/DXS1375E deletion syndrome

(CADDS) [MIM:300475]. Patients manifest profound neonatal hypotonia, subsequent failure to thrive,

and cholestatic liver disease

9 Novoseek disease relationships for ABCD1 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
adrenoleukodystrophy	98.64	185	16087056 (3), 17662307 (3), 17609205 (3), 8892025 (2) (see all 97)
peroxisomal disorders	90.70	7	15643618 (1), 18491823 (1), 9195223 (1), 7919919 (1) (see all 7)
demyelination	71.11	7	9173925 (2), 9195223 (1), 10319888 (1), 17532287 (1) (see all 6)
demyelinating diseases	68.08	14	9607414 (1), 8577752 (1), 11706205 (1), 9266848 (1) (see all 9)
adrenal dysfunction	61.45	1	17202797 (1)
addisons disease	61.11	3	17532287 (2), 7717396 (1)
neurodegenerative diseases	60.34	17	17686565 (1), 18973459 (1), 11422379 (1), 11063720 (1) (see all 11)
metabolic disorder	22.26	4	18723473 (2)
multiple sclerosis	0.00	1	11688182 (1)

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GeneTests: ABCD1

Adrenoleukodystrophy

Human Gene Mutation Database: ABCD1
Human Genome Epidemiology Navigator: ABCD1 (3 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)
About This Section

10/175 PubMed articles for ABCD1 gene (see all 175 ):

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. (PubMed id 8441467)^{2, 3, 4} Mosser J.... Aubourg P. (1993)
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. (PubMed id 8651290)^{1, 3, 4} Feigenbaum V.... Aubourg P. (1996)
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (PubMed id 11992258)^{1, 3, 4} Corzo D.... Steinberg S.J. (2002)
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. (PubMed id 11810273)^{1, 3, 4} Guimaraes C.P....Azevedo J.E. (2001)
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange. (PubMed id 11438993)^{1, 3, 4} Dvorakova L.... Berger J. (2001)
Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. (PubMed id 11248239)^{1, 3, 4} Roerig P.... Gaertner J. (2001)
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. (PubMed id 15643618)^{1, 3, 4} Montagna G.... Santorelli F.M. (2005)
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. (PubMed id 11748843)^{1, 3, 4} Kemp S.... Moser H.W. (2001)
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. (PubMed id 10980539)^{1, 3, 4} Lira M.G.... Salviati A. (2000)
Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. (PubMed id 10777694)^{1, 3, 4} Gloeckner C.J.... Roscher A.A. (2000)

(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: 215	HGNC: 61	AceView: ABCD1	Ensembl:ENSG00000101986	euGenes: HUgn215
ECgene: ABCD1	H-InvDB: ABCD1

(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
X-ALD gene mutation database	http://www.x-ald.nl/
GeneReviews	http://www.genetests.org/query?gene=ABCD1

Licensable Technologies for ABCD1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(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 ABCD1:

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 ABCD1-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 ABCD1		Antibodies for ABCD1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ABCD1		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 (ABCD1)
	Antibodies (ABCD1)
	Chimera RNAi (ABCD1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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	Antibodies (ABCD1, ALDP)

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Antibodies for ABCD1

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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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ABCD1 Gene at Home site.
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ABCD1 Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for ABCD1

Summaries
for ABCD1

Genomic Location
for ABCD1

Proteins
for ABCD1

Protein Domains/
Families
for ABCD1

Gene Function
for ABCD1

Pathways & Interactions
for ABCD1

Drugs & Compounds
for ABCD1

Transcripts
for ABCD1

Expression
for ABCD1

Orthologs
for ABCD1

Paralogs
for ABCD1

SNPs/Variants
for ABCD1

Disorders & Mutations
for ABCD1

Medical News
for ABCD1

Publications
for ABCD1

Search for ABCD1

Genome Databases showing ABCD1

Other Databases showing ABCD1

Specialized Databases showing ABCD1

Licensable Technologies
for ABCD1

Services
for ABCD1

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

ABCD1 Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor ABCD1

Summariesfor ABCD1

Genomic Locationfor ABCD1

Proteinsfor ABCD1

Protein Domains/Familiesfor ABCD1

Gene Functionfor ABCD1

Pathways & Interactionsfor ABCD1

Drugs & Compoundsfor ABCD1

Transcriptsfor ABCD1

Expression for ABCD1

Orthologsfor ABCD1

Paralogsfor ABCD1

SNPs/Variantsfor ABCD1

Disorders & Mutationsfor ABCD1

Medical Newsfor ABCD1

Publicationsfor ABCD1

Search for ABCD1

Genome Databases showing ABCD1

Other Databases showing ABCD1

Specialized Databases showing ABCD1

Licensable Technologiesfor ABCD1

Servicesfor ABCD1

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 ABCD1

Summaries
for ABCD1

Genomic Location
for ABCD1

Proteins
for ABCD1

Protein Domains/
Families
for ABCD1

Gene Function
for ABCD1

Pathways & Interactions
for ABCD1

Drugs & Compounds
for ABCD1

Transcripts
for ABCD1

Expression
for ABCD1

Orthologs
for ABCD1

Paralogs
for ABCD1

SNPs/Variants
for ABCD1

Disorders & Mutations
for ABCD1

Medical News
for ABCD1

Publications
for ABCD1

Licensable Technologies
for ABCD1

Services
for ABCD1