PEX19 - peroxisomal biogenesis factor 19 Gene

Homo sapiens

Also known as PXF; HK33; PMP1; PMPI; PXMP1; PBD12A; D1S2223E

Gene ID: 5824 | Gene type: protein coding

About PEX19

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,276,807-160,285,151 (from NCBI)

This gene has 12 transcripts (splice variants), 197 orthologues and is associated with 6 phenotypes. Ubiquitous expression in fat (RPKM 51.2), thyroid (RPKM 26.4) and 24 other tissues.

Summary

This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). 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. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some 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), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

PEX19 Products(2)

mRNA	Protein	Name
NM_001193644.1	NP_001180573.1	peroxisomal biogenesis factor 19 isoform c
NM_002857.4	NP_002848.1	peroxisomal biogenesis factor 19 isoform a

PEX19 Protein Structure

Pex19

0
100
200
299 a.a.

Protein Preferred Names

Protein Names

peroxisomal biogenesis factor 19

33 kDa housekeeping protein

Recombinant PEX19 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700383	PEX19 Protein, Human (GST)	P40855 (A2-C296)	≥95%

Related Diseases

Diseases

Alias

Peroxisome Biogenesis Disorder 12a

PBD12A	Peroxisome Biogenesis Disorder Complementation Group 14
PBD-CG14	Cg14
Pbd-Cgj	Peroxisome Biogenesis Disorder Complementation Group J
Peroxisome Biogenesis Disorder, Type 12a	Peroxisome Biogenesis Disorder, Complementation Group 14

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

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

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

Encephalitozoonosis

Infection By Encephalitozoon

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

Appendiceal Neoplasm

Appendix Neoplasm	Neoplasm Of Appendix
Appendiceal Neoplasms	Appendiceal Cancer
Appendix Cancer	Malignant Neoplasm Of Appendix Vermiformis
Malignant Tumour Of Appendix

Coccidioidomycosis

Valley Fever	Primary Extrapulmonary Coccidioidomycosis
Coccidioides Immitis Infection	Coccidiosis
Coccidioides Infection	Coccidioidomycosis, Unspecified
San Joaquin Fever	California Disease
Desert Fever	Desert Rheumatism
San Joaquin Valley Fever	Enteric Coccidiosis
Primary Pulmonary Coccidioidomycosis	Acute Coccidioidomycosis
Posadas Wernicke Disease

Appendix Cancer

Appendiceal Neoplasms	Cancer Of The Appendix
Malignant Neoplasm Of Appendix Vermiformis	Malignant Tumor Of Appendix
Malignant Tumor Of The Appendix	Malignant Neoplasm Of Appendix
Carcinoma Of The Appendix

Appendix Disease

Disorder Of Appendix

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Acatalasemia

Acatalasia	Catalase Deficiency
Deficiency Of Catalase	ACATLAS
Takahara'S Disease	Takahara Disease

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

Methylmalonic Aciduria And Homocystinuria, Cbld Type

Homocystinuria, Cbld Type, Variant 1	Methylmalonic Aciduria And Homocystinuria Type Cbld
Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2	MAHCD
Methylmalonic Acidemia And Homocystinuria, Cbld Type	Methylmalonic Aciduria, Cblh Type, Formerly
Methylmalonic Acidemia, Cblh Type, Formerly	Methylmalonic Aciduria, Cbld Type, Variant 2
Cobalamin D Deficiency	Methylcobalamin Deficiency Type Cbldv1
Functional Methionine Synthase Deficiency Type Cbldv1	Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Cbld Defect
Cobalamin D Defect	Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld
Methylmalonic Aciduria With Homocystinuria, Type Cbld	Homocystinuria Cbld Variant 1
Methylmalonic Acidemia And Homocystinuria Cbld Type	Methylmalonic Aciduria And Homocystinuria Cbld-Combined
Methylmalonic Aciduria And Homocystinuria Cbld Original	Methylmalonic Aciduria Cbld Variant 2
Aciduria, Methylmalonic, And Homocystinuria, Cbld Type

Microsporidiosis

Infection By Microspora	Microsporidiasis
Infection By Microsporea	Infection By Microsporida
Intestinal Microsporidiosis	Microsporidia Infection
Infection By Microsporidia

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

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-RS10347	PEX19 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PEX19	RGD	RGD:1306913
Bos taurus	PEX19	VGNC	VGNC:32758
Canis familiaris	PEX19	VGNC	VGNC:44432
Mus musculus	PEX19	MGD	MGI:1334458
Felis catus	PEX19	VGNC	VGNC:69189
Others	PEX19	NCBI

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