The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 disease... See more...

Aliases for PEX5 Gene

Aliases for PEX5 Gene

  • Peroxisomal Biogenesis Factor 5 2 3 5
  • Peroxisomal Targeting Signal 1 Receptor 2 3 4
  • Peroxisome Receptor 1 2 3 4
  • Peroxisomal C-Terminal Targeting Signal Import Receptor 3 4
  • Peroxisomal Import Receptor 5 2 3
  • PTS1 Receptor 3 4
  • Peroxin-5 3 4
  • PTS1-BP 3 4
  • PTS1R 3 4
  • PXR1 3 4
  • Peroxisomal Targeting Signal 1 (SKL Type) Receptor 3
  • Peroxisomal Targeting Signal Import Receptor 3
  • Peroxisomal Targeting Signal Receptor 1 3
  • PBD2A 3
  • PBD2B 3
  • RCDP5 3

External Ids for PEX5 Gene

Previous HGNC Symbols for PEX5 Gene

  • PXR1

Previous GeneCards Identifiers for PEX5 Gene

  • GC12P007235
  • GC12P007236
  • GC12P007341
  • GC12P007199
  • GC12P007246
  • GC12P007632
  • GC12P007680
  • GC12P007291
  • GC12P007314
  • GC12P007363
  • GC12P007408
  • GC12P007451
  • GC12P007496
  • GC12P007539
  • GC12P007580

Summaries for PEX5 Gene

Entrez Gene Summary for PEX5 Gene

  • The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

GeneCards Summary for PEX5 Gene

PEX5 (Peroxisomal Biogenesis Factor 5) is a Protein Coding gene. Diseases associated with PEX5 include Rhizomelic Chondrodysplasia Punctata, Type 5 and Peroxisome Biogenesis Disorder 2B. Among its related pathways are Peroxisome and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein N-terminus binding. An important paralog of this gene is PEX5L.

UniProtKB/Swiss-Prot Summary for PEX5 Gene

  • Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.

Gene Wiki entry for PEX5 Gene

Additional gene information for PEX5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX5 Gene

Genomics for PEX5 Gene

GeneHancer (GH) Regulatory Elements for PEX5 Gene

Promoters and enhancers for PEX5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PEX5 gene promoter:
  • FOXJ2
  • NRSF form 1
  • NRSF form 2
  • STAT5A

Genomic Locations for PEX5 Gene

Genomic Locations for PEX5 Gene
chr12:7,188,685-7,218,574
(GRCh38/hg38)
Size:
29,890 bases
Orientation:
Plus strand
chr12:7,341,281-7,371,170
(GRCh37/hg19)
Size:
29,890 bases
Orientation:
Plus strand

Genomic View for PEX5 Gene

Genes around PEX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX5 Gene

Proteins for PEX5 Gene

  • Protein details for PEX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50542-PEX5_HUMAN
    Recommended name:
    Peroxisomal targeting signal 1 receptor
    Protein Accession:
    P50542
    Secondary Accessions:
    • A8K891
    • B4DZ45
    • B7ZAD5
    • D3DUT8
    • Q15115
    • Q15266
    • Q96FN7

    Protein attributes for PEX5 Gene

    Size:
    639 amino acids
    Molecular mass:
    70865 Da
    Quaternary structure:
    • Interacts with PEX7 and PEX13 (By similarity). Interacts with PEX12 and PEX14. Interacts (Cys-linked ubiquitinated) with ZFAND6. Interacts with VWA8 in a PEX7-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for PEX5 Gene

    Alternative splice isoforms for PEX5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX5 Gene

Post-translational modifications for PEX5 Gene

  • Monoubiquitination at Cys-11 is required for proper export from peroxisomes and recycling.
  • Ubiquitination at Lys209, Lys217, Lys456, and Lys527
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PEX5 Gene

Domains & Families for PEX5 Gene

Gene Families for PEX5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PEX5 Gene

Suggested Antigen Peptide Sequences for PEX5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52372, highly similar to Peroxisomal targeting signal 1 receptor (B4DZ45_HUMAN)
  • Peroxisome receptor 1 (PEX5_HUMAN)
  • Peroxisomal targeting signal import receptor (Q13335_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50542

UniProtKB/Swiss-Prot:

PEX5_HUMAN :
  • Belongs to the peroxisomal targeting signal receptor family.
Family:
  • Belongs to the peroxisomal targeting signal receptor family.
genes like me logo Genes that share domains with PEX5: view

Function for PEX5 Gene

Molecular function for PEX5 Gene

UniProtKB/Swiss-Prot Function:
Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.

Phenotypes From GWAS Catalog for PEX5 Gene

Gene Ontology (GO) - Molecular Function for PEX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000268 peroxisome targeting sequence binding IDA 18346465
GO:0005052 peroxisome matrix targeting signal-1 binding IPI,IBA 21375735
GO:0005515 protein binding IPI 9653144
GO:0019899 enzyme binding IPI 11060344
GO:0031267 small GTPase binding IPI 18346465
genes like me logo Genes that share ontologies with PEX5: view
genes like me logo Genes that share phenotypes with PEX5: view

Human Phenotype Ontology for PEX5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX5 Gene

MGI Knock Outs for PEX5:
  • Pex5 Pex5<tm1Baes>

Animal Model Products

CRISPR Products

miRNA for PEX5 Gene

miRTarBase miRNAs that target PEX5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX5 Gene

Localization for PEX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX5 Gene

Cytoplasm. Peroxisome membrane; Peripheral membrane protein. Note=Its distribution appears to be dynamic. It is probably a cycling receptor found mainly in the cytoplasm and as well associated to the peroxisomal membrane through a docking factor (PEX13).

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 PEX5 gene
Compartment Confidence
peroxisome 5
cytosol 5
golgi apparatus 4
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PEX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 10514471
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA,IEA 11829486
GO:0005778 peroxisomal membrane IBA,TAS --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with PEX5: view

Pathways & Interactions for PEX5 Gene

PathCards logo

SuperPathways for PEX5 Gene

genes like me logo Genes that share pathways with PEX5: view

Pathways by source for PEX5 Gene

1 KEGG pathway for PEX5 Gene
1 Cell Signaling Technology pathway for PEX5 Gene

SIGNOR curated interactions for PEX5 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PEX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006625 protein targeting to peroxisome TAS --
GO:0006635 fatty acid beta-oxidation IEA --
GO:0007005 mitochondrion organization IEA --
GO:0007006 mitochondrial membrane organization IEA --
genes like me logo Genes that share ontologies with PEX5: view

Drugs & Compounds for PEX5 Gene

(3) Drugs for PEX5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for PEX5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PEX5: view

Transcripts for PEX5 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for PEX5 Gene

GeneLoc Exon Structure for
PEX5
ECgene alternative splicing isoforms for
PEX5

Expression for PEX5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX5 Gene

Protein differential expression in normal tissues from HIPED for PEX5 Gene

This gene is overexpressed in Bone (34.3) and Fetal Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX5 Gene



Protein tissue co-expression partners for PEX5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PEX5 Gene:

PEX5

SOURCE GeneReport for Unigene cluster for PEX5 Gene:

Hs.567327

mRNA Expression by UniProt/SwissProt for PEX5 Gene:

P50542-PEX5_HUMAN
Tissue specificity: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for PEX5 Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Eye(4.3)
  • Skin(2.6)
  • Adrenal gland(2.4)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX5 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 PEX5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PEX5 Gene

Orthologs for PEX5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PEX5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX5 33 32
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PEX5 33 32
  • 93.41 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX5 33
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX5 33 32
  • 90.66 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex5 32
  • 89.78 (n)
mouse
(Mus musculus)
Mammalia Pex5 17 33 32
  • 89.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PEX5 33
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX5 33 32
  • 72.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX5 33
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex5 32
  • 67.18 (n)
Str.14084 32
zebrafish
(Danio rerio)
Actinopterygii pex5 33 32
  • 64.46 (n)
OneToOne
zgc56318 32
fruit fly
(Drosophila melanogaster)
Insecta Pex5 33 32
  • 52.68 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea prx-5 33 32
  • 47 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX5 35 33
  • 25 (a)
-- 33
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 45 (a)
OneToMany
Cin.4167 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4167 32
Species where no ortholog for PEX5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PEX5 Gene

ENSEMBL:
Gene Tree for PEX5 (if available)
TreeFam:
Gene Tree for PEX5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEX5: view image

Paralogs for PEX5 Gene

Paralogs for PEX5 Gene

(2) SIMAP similar genes for PEX5 Gene using alignment to 13 proteins:

  • PEX5_HUMAN
  • B4E0T2_HUMAN
  • F5GXX3_HUMAN
  • F5GYB4_HUMAN
  • F5GZ41_HUMAN
  • F5H0L9_HUMAN
  • F5H205_HUMAN
  • F5H3X7_HUMAN
  • F5H432_HUMAN
  • F5H5C0_HUMAN
  • F5H637_HUMAN
  • H0YGT8_HUMAN
  • J3KPV0_HUMAN

Pseudogenes.org Pseudogenes for PEX5 Gene

genes like me logo Genes that share paralogs with PEX5: view

Variants for PEX5 Gene

Sequence variations from dbSNP and Humsavar for PEX5 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1057225 benign, Peroxisome biogenesis disorder 1A (Zellweger) 7,210,978(+) C/G 3_prime_UTR_variant, intron_variant
rs111286659 uncertain-significance, Peroxisome biogenesis disorder 1A (Zellweger), not provided 7,202,608(+) G/A/T intron_variant
rs112785895 likely-benign, Peroxisome biogenesis disorder 1A (Zellweger) 7,211,017(+) AG/AGAG 3_prime_UTR_variant, intron_variant
rs112966367 likely-benign, Peroxisome biogenesis disorder 1A (Zellweger) 7,210,298(+) G/A 3_prime_UTR_variant, intron_variant
rs113752912 likely-benign, Peroxisome biogenesis disorder 1A (Zellweger) 7,190,040(+) T/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PEX5 Gene

Variant ID Type Subtype PubMed ID
esv1200098 CNV deletion 17803354
esv1245276 CNV deletion 17803354
esv1262217 CNV deletion 17803354
esv1740647 CNV deletion 17803354
esv2407960 CNV deletion 18987734
esv2745482 CNV deletion 23290073
esv2745483 CNV deletion 23290073
esv2745484 CNV deletion 23290073
esv2745485 CNV deletion 23290073
esv2745487 CNV deletion 23290073
esv28301 CNV gain 19812545
nsv1041583 CNV loss 25217958
nsv1111068 CNV tandem duplication 24896259
nsv1124692 CNV deletion 24896259
nsv1134194 CNV deletion 24896259
nsv1138095 CNV deletion 24896259
nsv1142132 CNV tandem duplication 24896259
nsv821591 CNV deletion 20802225
nsv832325 CNV gain+loss 17160897
nsv957932 CNV deletion 24416366

Variation tolerance for PEX5 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX5 Gene

Human Gene Mutation Database (HGMD)
PEX5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX5 Gene

Disorders for PEX5 Gene

MalaCards: The human disease database

(17) MalaCards diseases for PEX5 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rhizomelic chondrodysplasia punctata, type 5
  • rcdp5
peroxisome biogenesis disorder 2b
  • pbd2b
peroxisome biogenesis disorder 2a
  • pbd2a
rhizomelic chondrodysplasia punctata
  • chondrodysplasia punctata, rhizomelic form
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
- elite association - COSMIC cancer census association via MalaCards
Search PEX5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX5_HUMAN
  • Peroxisome biogenesis disorder 2A (PBD2A) [MIM:214110]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically 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:7719337}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269 PubMed:10462504, ECO:0000269 PubMed:7719337}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rhizomelic chondrodysplasia punctata 5 (RCDP5) [MIM:616716]: A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity. {ECO:0000269 PubMed:26220973}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PEX5

genes like me logo Genes that share disorders with PEX5: view

No data available for Genatlas for PEX5 Gene

Publications for PEX5 Gene

  1. 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 56
  2. The di-aromatic pentapeptide repeats of the human peroxisome import receptor PEX5 are separate high affinity binding sites for the peroxisomal membrane protein PEX14. (PMID: 11438541) Saidowsky J … Schliebs W (The Journal of biological chemistry 2001) 3 4 23 56
  3. Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5. (PMID: 11101887) Gatto GJ … Berg JM (Nature structural biology 2000) 3 4 23 56
  4. PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. (PMID: 10562279) Chang CC … Gould SJ (The Journal of cell biology 1999) 3 4 23 56
  5. Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. (PMID: 10462504) Shimozawa N … Kondo N (Biochemical and biophysical research communications 1999) 3 4 23 56

Products for PEX5 Gene

Sources for PEX5 Gene