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 char... See more...

Aliases for PEX19 Gene

Aliases for PEX19 Gene

  • Peroxisomal Biogenesis Factor 19 2 3 4 5
  • Peroxisomal Farnesylated Protein 2 3 4
  • 33 KDa Housekeeping Protein 3 4
  • Housekeeping Gene, 33kD 2 3
  • Peroxin-19 3 4
  • HK33 3 4
  • PXF 3 4
  • D1S2223E 3
  • PBD12A 3
  • PXMP1 3
  • PMP1 3
  • PMPI 3

External Ids for PEX19 Gene

Previous HGNC Symbols for PEX19 Gene

  • PXF

Previous GeneCards Identifiers for PEX19 Gene

  • GC01M157464
  • GC01M157059
  • GC01M158513
  • GC01M160209
  • GC01M131603
  • GC01M160246

Summaries for PEX19 Gene

Entrez Gene Summary for PEX19 Gene

  • 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]

GeneCards Summary for PEX19 Gene

PEX19 (Peroxisomal Biogenesis Factor 19) is a Protein Coding gene. Diseases associated with PEX19 include Peroxisome Biogenesis Disorder 12A and Zellweger Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include protein N-terminus binding and peroxisome membrane class-1 targeting sequence binding. An important paralog of this gene is ENSG00000258465.

UniProtKB/Swiss-Prot Summary for PEX19 Gene

  • Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.

Gene Wiki entry for PEX19 Gene

Additional gene information for PEX19 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX19 Gene

Genomics for PEX19 Gene

GeneHancer (GH) Regulatory Elements for PEX19 Gene

Promoters and enhancers for PEX19 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J160283 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.8 1806 2.9 ZNF217 SIN3A POLR2G SP1 GTF2E2 PHF8 REST POLR2A ZBTB10 RFX1 ENSG00000258465 PEX19 NHLH1 lnc-NCSTN-3 DCAF8 LINC01133 COPA
GH01J160290 Promoter/Enhancer 0.5 EPDnew dbSUPER 500.7 -4.2 -4211 0.1 PEX19 NHLH1 lnc-PEX19-1 COPA
GH01J160277 Promoter 0.4 EPDnew 500.4 +8.9 8880 0.1 RXRA PEX19 RF00017-369 ENSG00000258465 RPSAP18
GH01J160282 Promoter 0.3 EPDnew 500.7 +4.2 4172 0.1 PEX19 RF00017-369 lnc-COPA-1 ENSG00000258465
GH01J160279 Promoter 0.3 EPDnew 500.4 +7.4 7386 0.1 PEX19 RF00017-369 ENSG00000258465 RPSAP18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX19 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEX19

Top Transcription factor binding sites by QIAGEN in the PEX19 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HEN1
  • NRSF form 1
  • NRSF form 2
  • SEF-1 (1)

Genomic Locations for PEX19 Gene

Genomic Locations for PEX19 Gene
chr1:160,276,809-160,286,348
(GRCh38/hg38)
Size:
9,540 bases
Orientation:
Minus strand
chr1:160,246,599-160,256,138
(GRCh37/hg19)
Size:
9,540 bases
Orientation:
Minus strand

Genomic View for PEX19 Gene

Genes around PEX19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX19 Gene

Proteins for PEX19 Gene

  • Protein details for PEX19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40855-PEX19_HUMAN
    Recommended name:
    Peroxisomal biogenesis factor 19
    Protein Accession:
    P40855
    Secondary Accessions:
    • D3DVE7
    • Q5QNY4
    • Q8NI97

    Protein attributes for PEX19 Gene

    Size:
    299 amino acids
    Molecular mass:
    32807 Da
    Quaternary structure:
    • Interacts with a broad range of peroxisomal membrane proteins, including PEX3, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14 and PEX16, PXMP2/PMP22, PXMP4/PMP24, SLC25A17/PMP34, ABCD1/ALDP, ABCD2/ALDRP, and ABCD3/PMP70. Also interacts with the tumor suppressor CDKN2A/p19ARF.
    Miscellaneous:
    • [Isoform 1]: The two main transcripts are PXF-all and PXF-delta-2.
    • [Isoform 2]: The two main transcripts are PXF-all and PXF-delta-2.
    • [Isoform 5]: Incomplete sequence.
    SequenceCaution:
    • Sequence=BAB93469.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PEX19 Gene

    Alternative splice isoforms for PEX19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX19 Gene

Post-translational modifications for PEX19 Gene

  • Ubiquitination at Lys52, Lys92, Lys60, Lys107, Lys130, Lys138, Lys198, and Lys245
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX19 Gene

No data available for DME Specific Peptides for PEX19 Gene

Domains & Families for PEX19 Gene

Gene Families for PEX19 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for PEX19 Gene

Blocks:
  • Pex19 protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PEX19 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52066, highly similar to Peroxisomal biogenesis factor 19 (B7Z6I5_HUMAN)
  • cDNA FLJ52177, highly similar to Peroxisomal biogenesis factor 19 (B7Z8B3_HUMAN)
  • Peroxisomal farnesylated protein (PEX19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P40855

UniProtKB/Swiss-Prot:

PEX19_HUMAN :
  • Belongs to the peroxin-19 family.
Family:
  • Belongs to the peroxin-19 family.
genes like me logo Genes that share domains with PEX19: view

Function for PEX19 Gene

Molecular function for PEX19 Gene

UniProtKB/Swiss-Prot Function:
Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.

Phenotypes From GWAS Catalog for PEX19 Gene

Gene Ontology (GO) - Molecular Function for PEX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10704444
GO:0036105 peroxisome membrane class-1 targeting sequence binding IDA 14709540
GO:0047485 protein N-terminus binding IPI 19197237
GO:0051117 ATPase binding IPI 11453642
genes like me logo Genes that share ontologies with PEX19: view
genes like me logo Genes that share phenotypes with PEX19: view

Human Phenotype Ontology for PEX19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PEX19 Gene

miRTarBase miRNAs that target PEX19

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX19

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PEX19 Gene

Localization for PEX19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX19 Gene

Cytoplasm. Peroxisome membrane; Lipid-anchor; Cytoplasmic side. Note=Mainly cytoplasmic. Some fraction membrane-associated to the outer surface of peroxisomes. {ECO:0000269 PubMed:10704444, ECO:0000269 PubMed:15007061}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEX19 gene
Compartment Confidence
peroxisome 5
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PEX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS --
GO:0005777 peroxisome ISS,IEA --
GO:0005778 peroxisomal membrane IDA,IEA 9339377
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PEX19: view

Pathways & Interactions for PEX19 Gene

genes like me logo Genes that share pathways with PEX19: view

Pathways by source for PEX19 Gene

SIGNOR curated interactions for PEX19 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PEX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome IMP 10704444
GO:0007031 peroxisome organization NAS 9339377
GO:0016559 peroxisome fission IMP 18782765
GO:0045046 protein import into peroxisome membrane IDA 11402059
GO:0050821 protein stabilization IDA 14709540
genes like me logo Genes that share ontologies with PEX19: view

Drugs & Compounds for PEX19 Gene

No Compound Related Data Available

Transcripts for PEX19 Gene

mRNA/cDNA for PEX19 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX19

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX19 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - -
SP5: -
SP6: - - - -
SP7: - -
SP8:

Relevant External Links for PEX19 Gene

GeneLoc Exon Structure for
PEX19

Expression for PEX19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEX19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX19 Gene

This gene is overexpressed in Bone (46.1) and Pancreas (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX19 Gene



Protein tissue co-expression partners for PEX19 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEX19

SOURCE GeneReport for Unigene cluster for PEX19 Gene:

Hs.517232

mRNA Expression by UniProt/SwissProt for PEX19 Gene:

P40855-PEX19_HUMAN
Tissue specificity: Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form.

Evidence on tissue expression from TISSUES for PEX19 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Liver(4.4)
  • Blood(4.3)
  • Eye(2.9)
  • Kidney(2.6)
  • Intestine(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • scalp
  • skull
  • tongue
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PEX19: view

No data available for mRNA differential expression in normal tissues for PEX19 Gene

Orthologs for PEX19 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX19 31 30
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PEX19 31 30
  • 92.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PEX19 31 30
  • 91.75 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX19 31
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102548286 30
  • 87.79 (n)
mouse
(Mus musculus)
Mammalia Pex19 17 31 30
  • 86.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PEX19 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex19 30
  • 73.78 (n)
Str.1546 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3383 30
zebrafish
(Danio rerio)
Actinopterygii pex19 31 30
  • 64.64 (n)
OneToOne
copa 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9268 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008804 30
  • 48.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pex19 31 30
  • 45.94 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-19 31
  • 32 (a)
OneToOne
wheat
(Triticum aestivum)
Liliopsida Ta.14283 30
barley
(Hordeum vulgare)
Liliopsida Hv.2097 30
rice
(Oryza sativa)
Liliopsida Os.17881 30
sea squirt
(Ciona savignyi)
Ascidiacea Cin.3835 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3835 30
Species where no ortholog for PEX19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PEX19 Gene

ENSEMBL:
Gene Tree for PEX19 (if available)
TreeFam:
Gene Tree for PEX19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEX19: view image

Paralogs for PEX19 Gene

Paralogs for PEX19 Gene

(1) SIMAP similar genes for PEX19 Gene using alignment to 7 proteins:

  • PEX19_HUMAN
  • B7Z6I5_HUMAN
  • B7Z8B3_HUMAN
  • E9PPB4_HUMAN
  • E9PS71_HUMAN
  • H0YDY4_HUMAN
  • Q5QNY5_HUMAN
genes like me logo Genes that share paralogs with PEX19: view

Variants for PEX19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEX19 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
30062 Pathogenic: Peroxisome biogenesis disorder 12A 160,282,969(-) CT/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
724753 Likely Benign: not provided 160,279,794(-) T/C INTRON_VARIANT
726621 Likely Benign: not provided 160,280,151(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
728251 Likely Benign: not provided 160,279,569(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
737576 Likely Benign: not provided 160,282,129(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PEX19 Gene

Structural Variations from Database of Genomic Variants (DGV) for PEX19 Gene

Variant ID Type Subtype PubMed ID
nsv3210 CNV deletion 18451855

Variation tolerance for PEX19 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX19 Gene

Human Gene Mutation Database (HGMD)
PEX19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX19

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX19 Gene

Disorders for PEX19 Gene

MalaCards: The human disease database

(29) MalaCards diseases for PEX19 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 12a
  • pbd12a
zellweger syndrome
  • zs
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
peroxisome biogenesis disorder 1b
  • pbd1b
peroxisomal biogenesis disorder
  • peroxisomal biogenesis disorders
- elite association - COSMIC cancer census association via MalaCards
Search PEX19 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX19_HUMAN
  • Peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:614886]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269 PubMed:20683989}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 12A (PBD12A) [MIM:614886]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:10051604}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PEX19

genes like me logo Genes that share disorders with PEX19: view

No data available for Genatlas for PEX19 Gene

Publications for PEX19 Gene

  1. Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. (PMID: 10051604) Matsuzono Y … Fujiki Y (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23 54
  2. Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein. (PMID: 9339377) Kammerer S … Braun A (Genomics 1997) 2 3 4 23 54
  3. Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19. (PMID: 19197237) Neufeld C … Sattler M (The EMBO journal 2009) 3 4 23 54
  4. PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins. (PMID: 15007061) Fang Y … Gould SJ (The Journal of cell biology 2004) 3 4 23 54
  5. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. (PMID: 11883941) Mayerhofer PU … Muntau AC (Biochemical and biophysical research communications 2002) 3 4 23 54

Products for PEX19 Gene

Sources for PEX19 Gene