PEX13 - peroxisomal biogenesis factor 13 Gene

Homo sapiens

Also known as ZWS; NALD; PBD11A; PBD11B

Gene ID: 5194 | Gene type: protein coding

About PEX13

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:61,017,720-61,051,990 (from NCBI)

This gene has 5 transcripts (splice variants), 193 orthologues and is associated with 7 phenotypes. Ubiquitous expression in thyroid (RPKM 8.0), liver (RPKM 7.8) and 25 other tissues.

Summary

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

PEX13 Products(1)

mRNA	Protein	Name
NM_002618.4	NP_002609.1	peroxisome biogenesis factor 13

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	8858165	GOA
enables protein transmembrane transporter activity	IDA IDA: Inferred from direct assay	28765278	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to reactive oxygen species	IDA IDA: Inferred from direct assay	26344566	GOA
involved in protein import into peroxisome matrix, docking	IDA IDA: Inferred from direct assay	28765278	GOA
involved in protein import into peroxisome matrix, docking	IMP IMP: Inferred from mutant phenotype	8858165	GOA
involved in protein import into peroxisome matrix, translocation	IDA IDA: Inferred from direct assay	28765278	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in peroxisomal membrane	IDA IDA: Inferred from direct assay	19197237	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	8858165	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	11829486	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

PEX13 Protein Structure

Peroxin-13_N

SH3_9

0
100
200
300
403 a.a.

Protein Preferred Names

Protein Names

peroxisome biogenesis factor 13

peroxin-13

PEX13 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PEX13	Q92968	PEX19	Homo sapiens	P40855	FPS	20531392
Intra	PEX13	Q92968	CEP19	Homo sapiens	Q96LK0	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Peroxisome Biogenesis Disorder 11b

PBD11B

Peroxisome Biogenesis Disorder, Type 11b

Peroxisome Biogenesis Disorder 11a

PBD11A	Peroxisome Biogenesis Disorder Complementation Group 13
PBD-CG13	Cg13
Pbd-Cgh	Peroxisome Biogenesis Disorder Complementation Group H
Peroxisome Biogenesis Disorder, Type 11a	Peroxisome Biogenesis Disorder, Complementation Group 13

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

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

Zellweger Syndrome

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

Zellweger Spectrum Disorder

Zsd	Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Zellweger Spectrum	Cerebrohepatorenal Syndrome
Pbd, Zss	Pbd-Zsd
Zellweger Syndrome Spectrum	Zellweger Syndrome

Rhizomelic Chondrodysplasia Punctata

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

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

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

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

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

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome	Mcops7
Mls Syndrome	Microphthalmia, Syndromic 7
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia With Linear Skin Defects
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome	Syndromic Microphthalmia Type 7
LSDMCA1	Mls
Microphthalmia, Dermal Aplasia, And Sclerocornea	Microphthalmia With Linear Skin Defect Syndrome
Syndromic Microphthalmia 7	Linear Skin Defects With Multiple Congenital Anomalies
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome	Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
Micropthalmia Syndromic 7	Microphthalmia Syndromic 7
Microphthalmia With Linear Skin Lesions Syndrome	Syndromic Microphthalmia-7
Microphthalmia, Dermal Aplasia And Sclerocornea	Microphthalmia, Syndromic, 7
Midas

Chromosome 2p16.1-P15 Deletion Syndrome

2p15p16.1 Microdeletion Syndrome	2p15-P16.1 Microdeletion Syndrome
Del(2)(P15p16.1)	Monosomy 2p15p16.1
Monosomy 2p15-P16.1

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

Albinism, Ocular, With Late-Onset Sensorineural Deafness

Ocular Albinism With Sensorineural Deafness	OASD
Deafness And Ocular Albinism	Ocular Albinism With Late-Onset Sensorineural Deafness
Albinism, Ocular, With Sensorineural Deafness	Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism
Digenic Waardenburg Syndrome/Albinism	Digenic Waardenburg Syndrome/Ocular Albinism
Ws2-Oa	Albinism Ocular Late Onset Sensorineural Deafness
Ocular Albinism With Late-Onset Sensorineural Hearing Loss	Waardenburg Syndrome/Ocular Albinism, Digenic
Waardenburg Syndrome/Albinism, Digenic	Ocular Albinism And Sensorineural Deafness

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

Cornelia De Lange Syndrome 1

De Lange Syndrome	CDLS1
Cdl	Cdls
Typus Degenerativus Amstelodamensis	Brachmann-De Lange Syndrome
Bdls	Amstelodamensis Typus Degenerativus
Cornelia De Lange Syndrome, Type 1

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10344	PEX13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PEX13	VGNC	VGNC:75949
Bos taurus	PEX13	VGNC	VGNC:32755
Canis familiaris	PEX13	VGNC	VGNC:44430
Rattus norvegicus	PEX13	RGD	RGD:1310682
Mus musculus	PEX13	MGD	MGI:1919379

Name
Email *

	Sorry, but the email address you supplied was invalid.