PEX6 - peroxisomal biogenesis factor 6 Gene

Also Known as PAF2; HMLR2; PAF-2; PBD4A; PDB4B; PXAAA1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5190

About PEX6

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,963,865-42,979,181 (from NCBI)

This gene has 2 transcripts (splice variants), 200 orthologues, 5 paralogues and is associated with 10 phenotypes. Ubiquitous expression in prostate (RPKM 9.4), ovary (RPKM 8.7) and 25 other tissues.

Summary

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

PEX6 Products (2)

mRNA	Protein	Name
NM_000287.4	NP_000278.3	peroxisome biogenesis factor 6 isoform 1
NM_001316313.2	NP_001303242.1	peroxisome biogenesis factor 6 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IMP IMP: Inferred from mutant phenotype	16854980	GOA
enables ATP hydrolysis activity	IMP IMP: Inferred from mutant phenotype	8670792	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9588209	GOA
enables protein transporter activity	IDA IDA: Inferred from direct assay	16854980	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	16854980	GOA
enables ubiquitin-modified protein reader activity	IDA IDA: Inferred from direct assay	19208625	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in peroxisome organization	IMP IMP: Inferred from mutant phenotype	8940266	GOA
involved in protein import into peroxisome matrix, receptor recycling	IDA IDA: Inferred from direct assay	16314507	GOA
involved in protein import into peroxisome matrix, translocation	IMP IMP: Inferred from mutant phenotype	8670792	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	8670792	GOA
involved in protein targeting to peroxisome	IMP IMP: Inferred from mutant phenotype	16854980	GOA
involved in protein unfolding	IDA IDA: Inferred from direct assay	16854980	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	8670792	GOA
located in cytosol	IDA IDA: Inferred from direct assay	16854980	GOA
is active in peroxisomal membrane	IDA IDA: Inferred from direct assay	21362118	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	11439091	GOA
located in photoreceptor cell cilium	IDA IDA: Inferred from direct assay	26593283	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

PEX6 Protein Structure

AAA

0
200
400
600
800
980 a.a.

Protein Preferred Names	Protein Names
peroxisome biogenesis factor 6	peroxin-6

PEX6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PEX6	Q13608	PEX1	Homo sapiens	O43933	Anti Bait CoIP	9588209

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Peroxisome Biogenesis Disorder 4a	PBD4A Peroxisome Biogenesis Disorder Complementation Group 4 PBD-CG4 Cg4 Pbd-Cg6 Pbd-Cgc Peroxisome Biogenesis Disorder Complementation Group 6 Peroxisome Biogenesis Disorder Complementation Group C Peroxisome Biogenesis Disorder, Type 4a
Heimler Syndrome 2	HMLR2 Peroxisome Biogenesis Disorder 4c Pbd4c Peroxisomal Biogenesis Disorder 4c Heimler Syndrome, Type 2
Peroxisome Biogenesis Disorder 4b	PBD4B Peroxisome Biogenesis Disorder, Type 4b
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 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
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
Spinocerebellar Ataxia, Autosomal Recessive 3	SCAR3 Scabd Autosomal Recessive Spinocerebellar Ataxia Type 3 Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome Spinocerebellar Ataxia With Blindness And Deafness Autosomal Recessive Spinocerebellar Ataxia 3 Spinocerebellar Ataxia Autosomal Recessive 3 Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness Autosomal Recessive Cerebellar Ataxia-Blindness-Deafness Syndrome
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
Heimler Syndrome 1	Deafness Enamel Hypoplasia Nail Defects Heimler Syndrome HMLR1 Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects Peroxisome Biogenesis Disorder 1c Pbd1c Deafness-Enamel Hypoplasia-Nail Defects Syndrome Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities Peroxisomal Biogenesis Disorder 1c Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome Heimler, Syndrome Heimler Syndrome, Type 1
Paroxysmal Dystonia	Paroxysmal Dyskinesia Pxd - [Paroxysmal Dyskinesia]
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
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
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
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
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
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
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
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
Kohlschutter-Tonz Syndrome	Amelocerebrohypohidrotic Syndrome KTZS Epilepsy And Yellow Teeth Kohlschutter Tonz Syndrome Kohlschutter Syndrome Epilepsy Dementia Amelogenesis Imperfecta Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome Epilepsy, Dementia, And Amelogenesis Imperfecta Kohlschutter'S Syndrome Kohlschütter-Tönz Syndrome Kohlschuetter-Toenz Syndrome Presenile Dementia Dementia
Alpha-Methylacyl-Coa Racemase Deficiency	Amacr Deficiency AMACRD
D-Bifunctional Protein Deficiency	Bifunctional Peroxisomal Enzyme Deficiency 17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency Dbp Deficiency Peroxisomal Bifunctional Enzyme Deficiency Pbfe Deficiency Bifunctional Enzyme Deficiency Pseudo-Zellweger Syndrome Zellweger-Like Syndrome DBPD Protein Deficiency, D-Bifunctional
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
Open-Angle Glaucoma	Glaucoma Simplex Pigmentary Glaucoma Wide-Angle Glaucoma Glaucoma, Open-Angle Open Angle Glaucoma Glaucoma Open-Angle Chronic Simple Glaucoma Coag - [Chronic Open-Angle Glaucoma] Csg - [Chronic Simple Glaucoma] Poag - [Primary Open-Angle Glaucoma] Oag - [Open-Angle Glaucoma] Chronic Glaucoma Chronic Open Angle Glaucoma Simple Glaucoma Chronic Noncongestive Glaucoma Ltg - [Low Tension Glaucoma] Noncongestive Glaucoma Nonobstructive Glaucoma Normal Pressure Glaucoma Primary Low Tension Glaucoma Low-Tension Glaucoma Residual Stage Low Tension Glaucoma Open Cleft Glaucoma
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Leukodystrophy	Leukodystrophies
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS10353	PEX6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PEX6	MGD	MGI:2385054
Felis catus	PEX6	VGNC	VGNC:68797
Bos taurus	PEX6	VGNC	VGNC:32763
Macaca mulatta	PEX6	VGNC	VGNC:75952
Rattus norvegicus	PEX6	RGD	RGD:621637
Canis familiaris	PEX6	VGNC	VGNC:44437
Others	PEX6	NCBI