2. Gene
  3. PEX10 - peroxisomal biogenesis factor 10 Gene

PEX10 - peroxisomal biogenesis factor 10 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NALD; PBD6A; PBD6B; RNF69

Gene ID: 5192 | Gene type: protein coding

About PEX10

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:2,403,974-2,413,827 (from NCBI)

This gene has 9 transcripts (splice variants), 193 orthologues and is associated with 8 phenotypes. Ubiquitous expression in prostate (RPKM 12.5), fat (RPKM 12.4) and 25 other tissues.

Summary

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PEX10 Products(5)

mRNA Protein Name
NM_001374425.1 NP_001361354.1 peroxisome biogenesis factor 10 isoform 3
NM_001374426.1 NP_001361355.1 peroxisome biogenesis factor 10 isoform 4
NM_001374427.1 NP_001361356.1 peroxisome biogenesis factor 10 isoform 5
NM_002617.4 NP_002608.1 peroxisome biogenesis factor 10 isoform 2
NM_153818.2 NP_722540.1 peroxisome biogenesis factor 10 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
10562279 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
24662292 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 peroxisome organization IDA
IDA: Inferred from direct assay
9700193 GOA
involved in protein import into peroxisome matrix IDA
IDA: Inferred from direct assay
9683594 GOA
involved in protein import into peroxisome matrix IMP
IMP: Inferred from mutant phenotype
10862081 GOA
involved in protein import into peroxisome matrix, receptor recycling IDA
IDA: Inferred from direct assay
24662292 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
24662292 GOA
Cellular Component GO Annotation Evidence Reference Source
is active in peroxisomal membrane IDA
IDA: Inferred from direct assay
9090384 GOA
located in peroxisomal membrane IDA
IDA: Inferred from direct assay
9700193 GOA
located in peroxisome IDA
IDA: Inferred from direct assay
9922452 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

PEX10 Protein Structure

Pex2_Pex12

Pex2_Pex12: Pex2 / Pex12 amino terminal region (18 - 241)

zf-C3HC4_2

zf-C3HC4_2: Zinc finger, C3HC4 type (RING finger) (273 - 310)

  • 0
  • 100
  • 200
  • 300
  • 326 a.a.
Protein Preferred Names Protein Names

peroxisome biogenesis factor 10

RING finger protein 69

Related Diseases

Diseases Alias
Peroxisome Biogenesis Disorder 6b

PBD6B

Peroxisome Biogenesis Disorder, Type 6b
Peroxisome Biogenesis Disorder 6a

PBD6A

Peroxisome Biogenesis Disorder, Complementation Group 7

Peroxisome Biogenesis Disorder Complementation Group 7

PBD-CG7

Cg7

Pbd-Cgb

Peroxisome Biogenesis Disorder Complementation Group B

Peroxisome Biogenesis Disorder, Type 6a
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
Autosomal Recessive Ataxia Due To Pex10 Deficiency

Mild Peroxisomal Disorder Due To Pex10 Deficiency
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 Spectrum Disorder

Zsd

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Zellweger Spectrum

Cerebrohepatorenal Syndrome

Pbd, Zss

Pbd-Zsd

Zellweger Syndrome Spectrum

Zellweger Syndrome
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
Spastic Ataxia

Spax

Ataxia, Spastic
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
Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic

Rcdp

Chondrodysplasia Punctata, Rhizomelic Form

Rcp

Chondrodysplasia Punctata Rhizomelic
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
Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter
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
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-RS10340 PEX10 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta PEX10 VGNC VGNC:75945
Felis catus PEX10 VGNC VGNC:68792
Mus musculus PEX10 MGD MGI:2684988
Bos taurus PEX10 VGNC VGNC:106861
Canis familiaris PEX10 VGNC VGNC:53431
Rattus norvegicus PEX10 RGD RGD:1591776