ABCD3 - ATP binding cassette subfamily D member 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5825

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	References	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	References	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	References	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

ABCD3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ABCD3	P28288	PEX19	Homo sapiens	P40855	Far-WB	10704444
Intra	ABCD3	P28288	ABCD1	Homo sapiens	P33897	CoIP	10551832

Cross: Cross-species interaction Intra: Intraspecies interaction

ABCD3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81883	PMP70 Antibody (YA1628)	WB, ICC/IF, FC	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16603	Cx3cl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00070	ABCD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03378	CX3CL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22365	Abcd3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28889	Abcd3 Rat Pre-designed siRNA Set A		/	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
Others	ABCD3	NCBI