ABCD3 - ATP binding cassette subfamily D member 3 Gene

Homo sapiens

Also known as ZWS2; ABC43; CBAS5; PMP70; PXMP1

Gene ID: 5825 | Gene type: protein coding

About ABCD3

Cytogenetic location: 1p21.3 Genomic coordinates (GRCh38): 1:94,385,131-94,518,663 (from NCBI)

This gene has 7 transcripts (splice variants), 232 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in liver (RPKM 28.7), kidney (RPKM 21.5) and 25 other tissues.

Summary

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 likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

ABCD3 Products(2)

mRNA	Protein	Name
NM_001122674.2	NP_001116146.1	ATP-binding cassette sub-family D member 3 isoform b
NM_002858.4	NP_002849.1	ATP-binding cassette sub-family D member 3 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IDA IDA: Inferred from direct assay	11248239	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	11248239	GOA
enables ATPase-coupled transmembrane transporter activity	IDA IDA: Inferred from direct assay	29397936	GOA
enables fatty acyl-CoA hydrolase activity	IDA IDA: Inferred from direct assay	29397936	GOA
enables long-chain fatty acid transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	24333844	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10551832	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	17609205	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fatty acid beta-oxidation	IDA IDA: Inferred from direct assay	24333844	GOA
involved in fatty acid beta-oxidation	IGI IGI: Inferred from genetic interaction	9425230	GOA
involved in fatty acid biosynthetic process	IMP IMP: Inferred from mutant phenotype	25168382	GOA
involved in long-chain fatty acid import into peroxisome	IMP IMP: Inferred from mutant phenotype	24333844	GOA
involved in peroxisome organization	IDA IDA: Inferred from direct assay	9425230	GOA
involved in peroxisome organization	IMP IMP: Inferred from mutant phenotype	9765053	GOA
involved in very long-chain fatty acid catabolic process	IGI IGI: Inferred from genetic interaction	9425230	GOA
involved in very long-chain fatty acid metabolic process	IDA IDA: Inferred from direct assay	29397936	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in peroxisomal matrix	IDA IDA: Inferred from direct assay	9765053	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	17609205	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9425230	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCD3 Protein Structure

ABC_membrane_2

ABC_tran

0
200
400
600
659 a.a.

Protein Preferred Names

Protein Names

ATP-binding cassette sub-family D member 3

70 kDa peroxisomal membrane protein

Related Diseases

Diseases

Alias

Bile Acid Synthesis Defect, Congenital, 5

Congenital Bile Acid Synthesis Defect 5	CBAS5
Bile Acid Synthesis Defect, Congenital, Type 5

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy	ALD
Siemerling-Creutzfeldt Disease	X-Ald
X-Linked Cerebral Adrenoleukodystrophy	Bronze Schilder Disease
Melanodermic Leukodystrophy	Addison Disease And Cerebral Sclerosis
Adrenomyeloneuropathy, Adult	Diffuse Sclerosis
X-Cald	Adrenomyeloneuropathy
Encephalitis Periaxialis Concentrica	Encephalitis Periaxialis, Schilder'S
Sudanophilic Cerebral Sclerosis	Ald Childhood Cerebral Form
Adrenoleukodystrophy X-Linked Cerebral Form	Adrenoleukodystrophy Childhood Cerebral Form
Childhood Cerebral Ald	Schilder Disease
X-Linked Ald	Adrenoleukodystrophy, X-Linked
Amn	Diffuse Cerebral Sclerosis Of Schilder
Systemic Scleroderma	Balo'S Concentric Sclerosis
Ald - [Adrenoleukodystrophy]	Addison-Schilder

Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Cba
Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency	Basd
Bile Acid Synthesis Defect, Congenital, 1

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Peroxisomal Acyl-Coa Oxidase Deficiency

Pseudoneonatal Adrenoleukodystrophy	Straight-Chain Acyl-Coa Oxidase Deficiency
Pseudoadrenoleukodystrophy	PSEUDO-NALD
Pseudo-Neonatal Adrenoleukodystrophy	Acyl-Coa Oxidase Deficiency
Peroxisomal Acyl-Coenzyme A Oxidase	Acyl-Coenzyme A Oxidase Deficiency
Adrenoleukodystrophy, Pseudoneonatal	Deficiency, Peroxisomal Acyl-Coa Oxidase

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic	Rcdp
Chondrodysplasia Punctata, Rhizomelic Form	Rcp
Chondrodysplasia Punctata Rhizomelic

Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency	17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency
Dbp Deficiency	Peroxisomal Bifunctional Enzyme Deficiency
Pbfe Deficiency	Bifunctional Enzyme Deficiency
Pseudo-Zellweger Syndrome	Zellweger-Like Syndrome
DBPD	Protein Deficiency, D-Bifunctional

Refsum Disease, Classic

Refsum Disease	Heredopathia Atactica Polyneuritiformis
Phytanic Acid Oxidase Deficiency	Hmsn Iv
Refsum Disease, Adult, 1	Refsum'S Disease
Phytanic Acid Storage Disease	Hereditary Motor And Sensory Neuropathy Iv
Hmsn4	Hmsn Type Iv
Hmsn 4	Adult Refsum Disease
Classic Refsum Disease	Hereditary Motor And Sensory Neuropathy Type Iv
Refsum Syndrome	Hsmn Iv
Disorder Of Cornification 11	Doc 11
Hereditary Sensory And Motor Neuropathy Type 4	Hypertrophic Neuropathy Of Refsum
Ard	Crd
Hereditary Motor And Sensory Neuropathy Type 4	Phytanic-Coa Hydroxylase Deficiency
RD

Leukodystrophy

Leukodystrophies

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00070	ABCD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ABCD3	MGD	MGI:1349216
Macaca mulatta	ABCD3	VGNC	VGNC:69579
Canis familiaris	ABCD3	VGNC	VGNC:37447
Felis catus	ABCD3	VGNC	VGNC:68091
Bos taurus	ABCD3	VGNC	VGNC:25478
Rattus norvegicus	ABCD3	RGD	RGD:2007

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