PEX7 - peroxisomal biogenesis factor 7 Gene

Also Known as RD; PBD9B; PTS2R; RCDP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5191

About PEX7

Cytogenetic location: 6q23.3 Genomic coordinates (GRCh38): 6:136,822,592-136,913,934 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues, 9 paralogues and is associated with 7 phenotypes. Ubiquitous expression in kidney (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues.

Summary

This gene encodes the cytosolic receptor for the set of peroxisomal matrix Enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]

PEX7 Products (2)

mRNA	Protein	Name
NM_000288.4	NP_000279.1	peroxisomal biogenesis factor 7 isoform 1
NM_001410945.1	NP_001397874.1	peroxisomal biogenesis factor 7 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	11931631	GOA
enables peroxisome matrix targeting signal-2 binding	IDA IDA: Inferred from direct assay	9090381	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11546814	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	11931631	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ether lipid biosynthetic process	IMP IMP: Inferred from mutant phenotype	9090383	GOA
involved in peroxisome organization	IMP IMP: Inferred from mutant phenotype	10022913	GOA
acts upstream of or within protein import into peroxisome matrix	IDA IDA: Inferred from direct assay	9090381	GOA
involved in protein import into peroxisome matrix	IDA IDA: Inferred from direct assay	11546814	GOA
involved in protein import into peroxisome matrix	IMP IMP: Inferred from mutant phenotype	12522768	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in cytosol	IDA IDA: Inferred from direct assay	25538232	GOA
located in cytosol	IDA IDA: Inferred from direct assay	11931631	GOA
is active in peroxisomal matrix	IDA IDA: Inferred from direct assay	11546814	GOA
located in peroxisomal matrix	IDA IDA: Inferred from direct assay	11931631	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9090382	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

PEX7 Protein Structure

WD40

0
100
200
300
323 a.a.

Protein Preferred Names	Protein Names
peroxisomal biogenesis factor 7	PTS2 receptor

PEX7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PEX7	O00628	PIAS1	Homo sapiens	O75925	Y2H Pooling	32814053
Intra	PEX7	O00628	PIAS1	Homo sapiens	O75925	Validated Y2H	32814053
Intra	PEX7	O00628	PIAS1	Homo sapiens	O75925	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelic Chondrodysplasia Punctata Type 1 RCDP1 Peroxisome Biogenesis Disorder 9 Pbd9 Chondrodysplasia Punctata, Rhizomelic Form Cdpr Chondrodystrophia Calcificans Punctata Rhizomelic Chondrodysplasia Punctata 1 Chondrodysplasia Punctata, Rhizomelic, Type 1 Chondrodysplasia Punctata, Rhizomelic
Peroxisome Biogenesis Disorder 9b	PBD9B Refsum Disease, Adult, 2 Peroxisome Biogenesis Disorder, Pex7-Related, Atypical Atypical Peroxisome Biogenesis Disorder Pex7-Related Refsum Disease Adult 2 Peroxisome Biogenesis Disorder Complementation Group 11 PBD-CG11 Cg11 Pbd-Cgr Peroxisome Biogenesis Disorder Complementation Group R Peroxisome Biogenesis Disorder, Type 9b Peroxisome Biogenesis Disorder, Complementation Group 11
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
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelic Chondrodysplasia Punctata Type 2 Dihydroxyacetonephosphate Acyltransferase Deficiency RCDP2 Dhapat Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Chondrodysplasia Punctata, Rhizomelic, Type 2 Rhizomelic Chondrodysplasia Punctata 2
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Rhizomelic Chondrodysplasia Punctata, Type 5	Rhizomelic Chondrodysplasia Punctata Type 5 RCDP5 Rhizomelic Chondrodysplasia Punctata 5 Chondrodysplasia Punctata, Rhizomelic, Type 5
Mulibrey Nanism	MUL Muscle-Liver-Brain-Eye Nanism Pericardial Constriction And Growth Failure Perheentupa Syndrome Mulibrey Growth Disorder Mulibrey Nanism Syndrome Pericardial Constriction With Growth Failure Nanism Mulibrey
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
Chondrodysplasia Punctata Syndrome	Chondrodysplasia Punctata Chondrodysplasia Punctata Congenita Toriello Higgins Miller Syndrome Chondrodysplasia Punctata, Toriello Type Toriello-Higgins-Miller Syndrome Cdp Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata Group Dysplasia Punctata Epiphysis Dysplasia Punctata Dysplasia Epiphysealis Punctata Chondrodystrophy Of Punctata
Bardet-Biedl Syndrome 13	BBS13 Bardet-Biedl Syndrome, Type 13
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
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
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
Warburg Micro Syndrome 1	Warburg Micro Syndrome Micro Syndrome Warbm WARBM1 Warburg Sjo Fledelius Syndrome Warburg-Sjo-Fledelius Syndrome Micro Syndrome 1 Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Neonatal Adrenoleukodystrophy	Nald Adrenoleukodystrophy Autosomal Neonatal Form Intermediate Pbd-Zsd Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Adrenoleukodystrophy, Autosomal, Neonatal Form Adrenoleukodystrophy Neonatal Adrenoleukodystrophy, Neonatal
Alpha-Methylacyl-Coa Racemase Deficiency	Amacr Deficiency AMACRD
Polyneuropathy	Polyneuropathies
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10354	PEX7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PEX7	VGNC	VGNC:75953
Bos taurus	PEX7	VGNC	VGNC:32764
Mus musculus	PEX7	MGD	MGI:1321392
Felis catus	PEX7	VGNC	VGNC:68799
Rattus norvegicus	PEX7	RGD	RGD:1308483
Canis familiaris	PEX7	VGNC	VGNC:44438
Others	PEX7	NCBI