PEX7 - peroxisomal biogenesis factor 7 Gene

Homo sapiens

Also known as RD; PBD9B; PTS2R; RCDP1

Gene ID: 5191 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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