PEX12 - peroxisomal biogenesis factor 12 Gene

Homo sapiens

Also known as PAF-3; PBD3A

Gene ID: 5193 | Gene type: protein coding

About PEX12

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:35,574,795-35,578,571 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues and is associated with 7 phenotypes. Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.4) and 25 other tissues.

Summary

This gene belongs to the peroxin-12 family. 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

PEX12 Products(1)

mRNA	Protein	Name
NM_000286.3	NP_000277.1	peroxisome assembly protein 12

PEX12 Protein Structure

Pex2_Pex12

0
100
200
300
359 a.a.

Protein Preferred Names

Protein Names

peroxisome assembly protein 12

peroxin 12

Related Diseases

Diseases

Alias

Peroxisome Biogenesis Disorder 3b

PBD3B	Peroxisome Biogenesis Disorder Type 3b
Peroxisome Biogenesis Disorder, Type 3b

Peroxisome Biogenesis Disorder 3a

PBD3A	Peroxisome Biogenesis Disorder Complementation Group 3
PBD-CG3	Cg3
Peroxisome Biogenesis Disorder, Type 3a

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 Spectrum Disorder

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

Zellweger Syndrome

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

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

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

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

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

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

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

Skin Creases, Congenital Symmetric Circumferential, 1

Michelin Tire Baby Syndrome	CSCSC1
Skin Creases, Multiple Benign Ring-Shaped, Of Limbs	Circumferential Skin Creases, Kunze Type
Congenital Symmetric Circumferential Skin Creases 1	Circumferential Skin Creases Kunze Type
Symmetric Circumferential Skin Creases, Congenital, 1	Csc-Kt
Multiple Benign Ring-Shaped Skin Creases Of Limbs	Michelin-Tire Baby

Skin Creases, Congenital Symmetric Circumferential, 2

CSCSC2	Symmetric Circumferential Skin Creases, Congenital, 2
Congenital Symmetric Circumferential Skin Creases 2

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

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-RS10343	PEX12 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PEX12	MGD	MGI:2144177
Bos taurus	PEX12	VGNC	VGNC:32754
Rattus norvegicus	PEX12	RGD	RGD:620757
Canis familiaris	PEX12	VGNC	VGNC:44429
Macaca mulatta	PEX12	VGNC	VGNC:75948
Felis catus	PEX12	VGNC	VGNC:68794

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