PEX16 - peroxisomal biogenesis factor 16 Gene

Homo sapiens

Also known as PBD8A; PBD8B

Gene ID: 9409 | Gene type: protein coding

About PEX16

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:45,909,663-45,918,822 (from NCBI)

This gene has 11 transcripts (splice variants), 202 orthologues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 7.9), spleen (RPKM 6.6) and 25 other tissues.

Summary

The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]

PEX16 Products(2)

mRNA	Protein	Name
NM_004813.4	NP_004804.2	peroxisomal biogenesis factor 16 isoform 1
NM_057174.3	NP_476515.2	peroxisomal biogenesis factor 16 isoform 2

PEX16 Protein Structure

Pex16

0
100
200
300
336 a.a.

Protein Preferred Names

Protein Names

peroxisomal biogenesis factor 16

peroxin 16

Related Diseases

Diseases

Alias

Peroxisome Biogenesis Disorder 8b

PBD8B

Peroxisome Biogenesis Disorder, Type 8b

Peroxisome Biogenesis Disorder 8a

PBD8A	Peroxisome Biogenesis Disorder Complementation Group 9
PBD-CG9	Cg9
Pbd-Cgd	Peroxisome Biogenesis Disorder Complementation Group D
Peroxisome Biogenesis Disorder, Type 8a

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

Spastic Paraplegia 46, Autosomal Recessive

SPG46	Hereditary Spastic Paraplegia 46
Autosomal Recessive Spastic Paraplegia Type 46	Autosomal Recessive Spastic Paraplegia 46
Paraplegia, Spastic, Type 46, Autosomal Recessive

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

Frontonasal Dysplasia 2

FND2	Frontonasal Dysplasia With Alopecia And Genital Anomaly
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alx4-Related Fndag
Craniofrontonasal Dysplasia With Alopecia And Hypogonadism	Frontonasal Dysplasia Type 2
Frontonasal Dysplasia With Alopecia And Genital Abnomality	Doid:0081046
Dysplasia, Frontonasal, Type 2

Spastic Ataxia 4

Mitochondrial Dna Depletion Syndrome 13

MTDPS13	Fbxl4 Deficiency
Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome	Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies	Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies
Fbxl4-Related Early-Onset Mitochondrial Encephalopathy	Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type
Bxl4-Related Early-Onset Mitochondrial Encephalopathy	Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13
Fbxl4-Related Early Onset Mitochondrial Encephalopathy	Mitochondrial Dna Depletion Syndrome, Type 13

Mitochondrial Dna Depletion Syndrome 3

Deoxyguanosine Kinase Deficiency	Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
MTDPS3	Dguok Deficiency
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form	Dguok-Related Mitochondrial Dna Depletion Syndrome
Hepatocerebral Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome, Hepatocerebral Form
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency	Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type	Mitochondrial Dna Depletion Syndrome , Type 3

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

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

Developmental And Epileptic Encephalopathy 2

Epileptic Encephalopathy, Early Infantile, 2	DEE2
Eiee2	Issx2
Developmental And Epileptic Encephalopathy, 2	Infantile Spasm Syndrome, X-Linked 2
Early Infantile Epileptic Encephalopathy 2	X-Linked Infantile Spasm Syndrome 2
Atypical Rett Syndrome Cdkl5-Related	Atypical Rett Syndrome Hanefeld Variant
Infantile Spasm Syndrome X-Linked 2	Rett Syndrome Early-Onset Seizure Variant
Rett Syndrome Variant With Infantile Spasms	Encephalopathy, Epileptic, Early Infantile, Type 2

Parietal Foramina

Enlarged Parietal Foramina	Hereditary Cranium Bifidum
Symmetric Parietal Foramina	Catlin Marks
Foramina Parietalia Permagna	Caitlin Marks
Cranium Bifidum	Cranium Bifidum Occultum
Fenestrae Parietals Symmetricae	Fpp
Giant Parietal Foramina	Pfm
Fenestrae Parietales Symmetricae	Foramina, Parietal

Constipation

Spastic Ataxia

Spax	Ataxia, Spastic

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-RS10346	PEX16 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PEX16	VGNC	VGNC:68795
Macaca mulatta	PEX16	VGNC	VGNC:75950
Bos taurus	PEX16	VGNC	VGNC:32757
Mus musculus	PEX16	MGD	MGI:1338829
Rattus norvegicus	PEX16	RGD	RGD:1311372
Canis familiaris	PEX16	VGNC	VGNC:44431

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