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Aliases for PEX1 Gene

Aliases for PEX1 Gene

  • Peroxisomal Biogenesis Factor 1 2 3 5
  • Peroxisome Biogenesis Disorder Protein 1 3 4
  • Peroxisome Biogenesis Factor 1 2 3
  • Zellweger Syndrome 2 3
  • Peroxin-1 3 4
  • Zellweger Syndrome 1 2
  • HMLR1 3
  • PBD1A 3
  • PBD1B 3
  • ZWS1 3
  • ZWS 3

External Ids for PEX1 Gene

Previous HGNC Symbols for PEX1 Gene

  • ZWS1
  • ZWS

Previous GeneCards Identifiers for PEX1 Gene

  • GC07M090651
  • GC07M091714
  • GC07M091728
  • GC07M091760
  • GC07M091954
  • GC07M092116
  • GC07M086725

Summaries for PEX1 Gene

Entrez Gene Summary for PEX1 Gene

  • This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

GeneCards Summary for PEX1 Gene

PEX1 (Peroxisomal Biogenesis Factor 1) is a Protein Coding gene. Diseases associated with PEX1 include Peroxisome Biogenesis Disorder 1B and Peroxisome Biogenesis Disorder 1A. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include four-way junction helicase activity.

UniProtKB/Swiss-Prot for PEX1 Gene

  • Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Gene Wiki entry for PEX1 Gene

Additional gene information for PEX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX1 Gene

Genomics for PEX1 Gene

GeneHancer (GH) Regulatory Elements for PEX1 Gene

Promoters and enhancers for PEX1 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
GH07J092527 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 705 +0.2 160 2.4 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 PEX1 RBM48 FAM133B KRIT1 ENSG00000243107 MTERF1 GATAD1 CDK6 AKAP9 GC07M092508
GH07J092588 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 32.3 -61.3 -61340 2.3 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC FAM133B ENSG00000243107 KRIT1 PEX1 MTERF1 GATAD1 RBM48 ANKIB1 AKAP9 ERVW-1
GH07J093231 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 28.2 -703.6 -703614 2.1 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 VPS50 HEPACAM2 KRIT1 LOC105375403 PEX1 SAMD9L GATAD1 FAM133B BET1
GH07J091879 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.5 +647.9 647889 1.7 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 MTERF1 ENSG00000243107 AKAP9 KRIT1 GATAD1 PEX1 CYP51A1 ANKIB1 GC07P091818
GH07J092829 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.4 -305.7 -305653 9.6 FEZF1 DMAP1 IRF4 YY1 ZNF143 SP3 MEF2D ZNF610 GLIS1 NBN CDK6 ENSG00000243107 FAM133B KRIT1 GATAD1 PEX1 MTERF1 AKAP9 SAMD9 LOC101927497
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PEX1 gene promoter:
  • E2F-1
  • HEN1
  • E2F
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • GATA-3
  • ATF6

Genomic Locations for PEX1 Gene

Genomic Locations for PEX1 Gene
chr7:92,487,020-92,528,531
(GRCh38/hg38)
Size:
41,512 bases
Orientation:
Minus strand
chr7:92,116,334-92,157,845
(GRCh37/hg19)
Size:
41,512 bases
Orientation:
Minus strand

Genomic View for PEX1 Gene

Genes around PEX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX1 Gene

Proteins for PEX1 Gene

  • Protein details for PEX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43933-PEX1_HUMAN
    Recommended name:
    Peroxisome biogenesis factor 1
    Protein Accession:
    O43933
    Secondary Accessions:
    • A4D1G3
    • A8KA90
    • B4DIM7
    • E9PE75
    • Q96S71
    • Q96S72
    • Q96S73
    • Q99994

    Protein attributes for PEX1 Gene

    Size:
    1283 amino acids
    Molecular mass:
    142867 Da
    Quaternary structure:
    • Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6.
    SequenceCaution:
    • Sequence=AAB46346.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PEX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX1 Gene

Post-translational modifications for PEX1 Gene

  • Ubiquitination at isoforms=21224, Lys887, isoforms=2833, isoforms=2816, and Lys806
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX1 Gene

No data available for DME Specific Peptides for PEX1 Gene

Domains & Families for PEX1 Gene

Gene Families for PEX1 Gene

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

Suggested Antigen Peptide Sequences for PEX1 Gene

Graphical View of Domain Structure for InterPro Entry

O43933

UniProtKB/Swiss-Prot:

PEX1_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with PEX1: view

Function for PEX1 Gene

Molecular function for PEX1 Gene

UniProtKB/Swiss-Prot Function:
Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.
GENATLAS Biochemistry:
peroxin 1,peroxisome biogenesis factor 1,located mainly in the cytoplasm,required for the stability of PEX5 (PXR1) homolog to S cerevisiae PEX1

Phenotypes From GWAS Catalog for PEX1 Gene

Gene Ontology (GO) - Molecular Function for PEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9588209
GO:0005524 ATP binding IEA,IMP 16854980
GO:0008022 protein C-terminus binding IPI 16854980
GO:0042623 ATPase activity, coupled IEA,IMP 16854980
GO:0044877 protein-containing complex binding IDA 16854980
genes like me logo Genes that share ontologies with PEX1: view
genes like me logo Genes that share phenotypes with PEX1: view

Human Phenotype Ontology for PEX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX1 Gene

MGI Knock Outs for PEX1:
  • Pex1 Pex1<tm1.2Sjms>

Animal Model Products

miRNA for PEX1 Gene

miRTarBase miRNAs that target PEX1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX1 Gene

Localization for PEX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX1 Gene

Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes.

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 PEX1 gene
Compartment Confidence
extracellular 5
peroxisome 5
cytosol 5
nucleus 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 9588209
GO:0005777 peroxisome IDA 16854980
GO:0005778 peroxisomal membrane IDA,IEA 11439091
GO:0005829 cytosol IDA 16854980
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PEX1: view

Pathways & Interactions for PEX1 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX1: view

Pathways by source for PEX1 Gene

1 KEGG pathway for PEX1 Gene

Gene Ontology (GO) - Biological Process for PEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome IEA,IMP 11439091
GO:0007031 peroxisome organization IEA,IMP 11439091
GO:0015031 protein transport IEA --
GO:0016558 protein import into peroxisome matrix IMP 9398847
GO:0060152 microtubule-based peroxisome localization IMP 16449325
genes like me logo Genes that share ontologies with PEX1: view

No data available for SIGNOR curated interactions for PEX1 Gene

Drugs & Compounds for PEX1 Gene

(1) Additional Compounds for PEX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PEX1: view

Transcripts for PEX1 Gene

Unigene Clusters for PEX1 Gene

Peroxisomal biogenesis factor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12:

Relevant External Links for PEX1 Gene

GeneLoc Exon Structure for
PEX1
ECgene alternative splicing isoforms for
PEX1

Expression for PEX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX1 Gene

This gene is overexpressed in Esophagus (22.5), Bone marrow mesenchymal stem cell (17.3), and Lung (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PEX1 Gene:

PEX1

SOURCE GeneReport for Unigene cluster for PEX1 Gene:

Hs.164682

Evidence on tissue expression from TISSUES for PEX1 Gene

  • Nervous system(4.4)
  • Heart(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX1 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
  • pituitary gland
  • scalp
  • skull
  • tongue
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • 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
  • nail
  • 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 PEX1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PEX1 Gene

Orthologs for PEX1 Gene

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

Orthologs for PEX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX1 34 33
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PEX1 34 33
  • 88.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PEX1 34 33
  • 87.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pex1 16 34 33
  • 82.93 (n)
rat
(Rattus norvegicus)
Mammalia Pex1 33
  • 82.93 (n)
oppossum
(Monodelphis domestica)
Mammalia PEX1 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX1 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX1 34 33
  • 68.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX1 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex1 33
  • 60.34 (n)
Str.19191 33
zebrafish
(Danio rerio)
Actinopterygii pex1 34 33
  • 55.89 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(3)70Da 35
  • 40 (a)
Pex1 34
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-1 34 35
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX1 36 34
  • 30 (a)
Species where no ortholog for PEX1 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PEX1 Gene

ENSEMBL:
Gene Tree for PEX1 (if available)
TreeFam:
Gene Tree for PEX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEX1: view image

Paralogs for PEX1 Gene

(9) SIMAP similar genes for PEX1 Gene using alignment to 4 proteins:

  • PEX1_HUMAN
  • B4DEY5_HUMAN
  • E9PE75_HUMAN
  • H7BZH3_HUMAN
genes like me logo Genes that share paralogs with PEX1: view

No data available for Paralogs for PEX1 Gene

Variants for PEX1 Gene

Sequence variations from dbSNP and Humsavar for PEX1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs10278857 conflicting-interpretations-of-pathogenicity, benign, not specified, Zellweger syndrome 92,501,975(-) G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1028247729 likely-pathogenic, Zellweger syndrome, Peroxisome biogenesis disorder 1B 92,522,246(-) C/A/G genic_upstream_transcript_variant, splice_acceptor_variant
rs1057517463 likely-pathogenic, Peroxisome biogenesis disorder 1B, Zellweger syndrome 92,511,009(-) CCC/CCCC 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057517464 likely-pathogenic, Peroxisome biogenesis disorder 1B, Zellweger syndrome 92,504,882(-) G/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs1057517465 likely-pathogenic, Peroxisome biogenesis disorder 1B, Zellweger syndrome 92,517,439(-) TT/T 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PEX1 Gene

Variant ID Type Subtype PubMed ID
esv2657169 CNV deletion 23128226
esv3614141 CNV loss 21293372
nsv5841 CNV insertion 18451855

Variation tolerance for PEX1 Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.51; 55.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX1 Gene

Human Gene Mutation Database (HGMD)
PEX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX1 Gene

Disorders for PEX1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for PEX1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 1b
  • pbd1b
peroxisome biogenesis disorder 1a
  • pbd1a
heimler syndrome 1
  • hmlr1
deafness enamel hypoplasia nail defects
  • bilateral sensorineural hearing loss, enamel hypoplasia and nail defects
zellweger syndrome
  • zs
- elite association - COSMIC cancer census association via MalaCards
Search PEX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX1_HUMAN
  • Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]: 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:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder 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:9398847, ECO:0000269 PubMed:9398848, ECO:0000269 PubMed:9539740}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]: 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:11439091, ECO:0000269 PubMed:16088892, ECO:0000269 PubMed:9398847, ECO:0000269 PubMed:9539740}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Heimler syndrome 1 (HMLR1) [MIM:234580]: A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. {ECO:0000269 PubMed:26387595, ECO:0000269 PubMed:27302843}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PEX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PEX1: view

No data available for Genatlas for PEX1 Gene

Publications for PEX1 Gene

  1. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. (PMID: 9398848) Portsteffen H … Dodt G (Nature genetics 1997) 2 3 4 22 58
  2. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PMID: 19105186) Yik WY … Hacia JG (Human mutation 2009) 3 4 22 58
  3. Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. (PMID: 16088892) Maxwell MA … Crane DI (Human mutation 2005) 3 4 22 58
  4. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. (PMID: 11439091) Tamura S … Fujiki Y (The Biochemical journal 2001) 3 4 22 58
  5. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. (PMID: 9539740) Tamura S … Fujiki Y (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22 58

Products for PEX1 Gene

Sources for PEX1 Gene

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