PEX5 - peroxisomal biogenesis factor 5 Gene

Homo sapiens

Also known as PXR1; PBD2A; PBD2B; PTS1R; RCDP5; PTS1-BP

Gene ID: 5830 | Gene type: protein coding

About PEX5

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:7,188,653-7,218,574 (from NCBI)

This gene has 21 transcripts (splice variants), 1 gene allele, 215 orthologues, 1 paralogue and is associated with 9 phenotypes. Ubiquitous expression in testis (RPKM 16.9), brain (RPKM 10.8) and 25 other tissues.

Summary

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 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 are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

PEX5 Products(26)

mRNA	Protein	Name
NM_000319.5	NP_000310.2	peroxisomal biogenesis factor 5 isoform b
NM_001131023.2	NP_001124495.1	peroxisomal biogenesis factor 5 isoform a
NM_001131024.2	NP_001124496.1	peroxisomal biogenesis factor 5 isoform c
NM_001131025.2	NP_001124497.1	peroxisomal biogenesis factor 5 isoform d
NM_001131026.2	NP_001124498.1	peroxisomal biogenesis factor 5 isoform d
NM_001300789.3	NP_001287718.2	peroxisomal biogenesis factor 5 isoform d
NM_001351124.3	NP_001338053.1	peroxisomal biogenesis factor 5 isoform c
NM_001351126.2	NP_001338055.1	peroxisomal biogenesis factor 5 isoform c
NM_001351127.2	NP_001338056.1	peroxisomal biogenesis factor 5 isoform c
NM_001351128.2	NP_001338057.1	peroxisomal biogenesis factor 5 isoform c
NM_001351130.3	NP_001338059.1	peroxisomal biogenesis factor 5 isoform c
NM_001351131.2	NP_001338060.1	peroxisomal biogenesis factor 5 isoform d
NM_001351132.2	NP_001338061.1	peroxisomal biogenesis factor 5 isoform d
NM_001351133.2	NP_001338062.1	peroxisomal biogenesis factor 5 isoform d
NM_001351134.2	NP_001338063.1	peroxisomal biogenesis factor 5 isoform d
NM_001351135.3	NP_001338064.2	peroxisomal biogenesis factor 5 isoform i
NM_001351136.2	NP_001338065.1	peroxisomal biogenesis factor 5 isoform g
NM_001351137.3	NP_001338066.2	peroxisomal biogenesis factor 5 isoform c
NM_001351138.2	NP_001338067.1	peroxisomal biogenesis factor 5 isoform i
NM_001351139.2	NP_001338068.1	peroxisomal biogenesis factor 5 isoform j
NM_001351140.2	NP_001338069.1	peroxisomal biogenesis factor 5 isoform j
NM_001374645.1	NP_001361574.1	peroxisomal biogenesis factor 5 isoform c
NM_001374646.1	NP_001361575.1	peroxisomal biogenesis factor 5 isoform c
NM_001374647.2	NP_001361576.1	peroxisomal biogenesis factor 5 isoform d
NM_001374648.2	NP_001361577.1	peroxisomal biogenesis factor 5 isoform c
NM_001374649.2	NP_001361578.1	peroxisomal biogenesis factor 5 isoform j

PEX5 Protein Structure

TPR_11

TPR_1

0
100
200
300
400
500
600
639 a.a.

Protein Preferred Names

Protein Names

peroxisomal biogenesis factor 5

PTS1 receptor

Related Diseases

Diseases

Alias

Rhizomelic Chondrodysplasia Punctata, Type 5

Rhizomelic Chondrodysplasia Punctata Type 5	RCDP5
Rhizomelic Chondrodysplasia Punctata 5	Chondrodysplasia Punctata, Rhizomelic, Type 5

Peroxisome Biogenesis Disorder 2b

PBD2B

Peroxisome Biogenesis Disorder, Type 2b

Peroxisome Biogenesis Disorder 2a

PBD2A	Peroxisome Biogenesis Disorder Complementation Group 2
PBD-CG2	Cg1
Pbd-Cge	Peroxisome Biogenesis Disorder Complementation Group E
Peroxisome Biogenesis Disorder, Type 2a

Rhizomelic Chondrodysplasia Punctata

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

Peroxisome Biogenesis Disorder 1a

PBD1A	Zs
Zws	Cerebrohepatorenal Syndrome
Chr	Zellweger Syndrome
Cerebro-Hepato-Renal Syndrome	Chr Syndrome
Zellweger'S Syndrome	Peroxisome Biogenesis Disorder Complementation Group 1
PBD-CG1	Cg1
Pbd-Cge	Peroxisome Biogenesis Disorder Complementation Group E
Peroxisome Biogenesis Disorder, Complementation Group 1	Cerebrohepatorenal Syndrome, Variant Types
Peroxisome Biogenesis Disorder Type 1a	Peroxisome Biogenesis Disorder, Type 1a

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

Zellweger Syndrome

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

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

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

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

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

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

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

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

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

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, 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

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Leukodystrophy

Leukodystrophies

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 (4)

Cat. No.	Product Name	Purity	Rare Diseases
HY-155530	PEX5-PEX14 PPI-IN-1	/	Unkown
HY-155531	PEX5-PEX14 PPI-IN-2	/	Unkown
HY-RS10351	PEX5 Human Pre-designed siRNA Set A	/	Unkown
HY-RS10352	PEX5L Human Pre-designed siRNA Set A	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PEX5	VGNC	VGNC:76016
Bos taurus	PEX5	VGNC	VGNC:32761
Canis familiaris	PEX5	VGNC	VGNC:44435
Rattus norvegicus	PEX5	RGD	RGD:1307612
Felis catus	PEX5	VGNC	VGNC:69190
Mus musculus	PEX5	MGD	MGI:1098808

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