Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PEX6 Gene

Aliases for PEX6 Gene

  • Peroxisomal Biogenesis Factor 6 2 3 4 5
  • Peroxisomal-Type ATPase 1 3 4
  • Peroxin-6 3 4
  • PXAAA1 3 4
  • PAF-2 3 4
  • Peroxisome Biogenesis Factor 6 3
  • Peroxisomal AAA-Type ATPase 1 3
  • Peroxisome Assembly Factor 2 3
  • HMLR2 3
  • PBD4A 3
  • PDB4B 3
  • PAF2 3

External Ids for PEX6 Gene

Previous GeneCards Identifiers for PEX6 Gene

  • GC06M042933
  • GC06M042978
  • GC06M043039
  • GC06M042648

Summaries for PEX6 Gene

Entrez Gene Summary for PEX6 Gene

  • 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]

GeneCards Summary for PEX6 Gene

PEX6 (Peroxisomal Biogenesis Factor 6) is a Protein Coding gene. Diseases associated with PEX6 include Peroxisome Biogenesis Disorder 4A and Heimler Syndrome 2. Among its related pathways are Peroxisome. GO annotations related to this gene include ATPase activity and protein C-terminus binding.

UniProtKB/Swiss-Prot for PEX6 Gene

  • Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. 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 PEX6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX6 Gene

Genomics for PEX6 Gene

Regulatory Elements for PEX6 Gene

Enhancers for PEX6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G042928 1.4 ENCODE dbSUPER 75.6 +48.5 48455 5.6 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PEX6 POLH PPP2R5D RRP36 RPL24P4 BICRAL RPL34P14 KLHDC3 MEA1 KLC4
GH06G042959 1.1 ENCODE 91.4 +18.7 18680 1.8 HDGF AGO1 ZFP64 ARID4B SIN3A YY1 SLC30A9 ZNF143 DEK SP3 PEX6 POLH BICRAL RPL34P14 CUL7 GC06M042961 RPL24P4
GH06G042977 1.1 ENCODE 91.3 -0.1 -98 2.9 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 PEX6 RRP36 POLH DNPH1 GNMT CUL7 PPP2R5D
GH06G042987 0.8 ENCODE 75 -9.8 -9754 3.4 HDAC1 HDGF CTCF SIN3A ZMYM3 CEBPG RAD21 ZFHX2 EGR1 FOXK2 PEX6 CUL7 DNPH1 ENSG00000272223 PPP2R5D GC06P043011
GH06G042910 1.7 Ensembl ENCODE dbSUPER 32.8 +67.7 67656 1.8 HDGF FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 PEX6 RPL7L1 ENSG00000231113 PPP2R5D KLHDC3 MEA1 RNU6-890P PTCRA LOC105375063
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PEX6 on UCSC Golden Path with GeneCards custom track

Promoters for PEX6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000197072 443 1601 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for PEX6 Gene

Chromosome:
6
Start:
42,963,870 bp from pter
End:
42,979,243 bp from pter
Size:
15,374 bases
Orientation:
Minus strand

Genomic View for PEX6 Gene

Genes around PEX6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX6 Gene

Proteins for PEX6 Gene

  • Protein details for PEX6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13608-PEX6_HUMAN
    Recommended name:
    Peroxisome assembly factor 2
    Protein Accession:
    Q13608
    Secondary Accessions:
    • Q5T8W1
    • Q8WYQ0
    • Q8WYQ1
    • Q8WYQ2
    • Q99476

    Protein attributes for PEX6 Gene

    Size:
    980 amino acids
    Molecular mass:
    104061 Da
    Quaternary structure:
    • Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26. Interacts with ZFAND6.

    Alternative splice isoforms for PEX6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX6 Gene

Post-translational modifications for PEX6 Gene

  • Ubiquitination at Lys306 and posLast=374374
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX6 Gene

No data available for DME Specific Peptides for PEX6 Gene

Domains & Families for PEX6 Gene

Gene Families for PEX6 Gene

Protein Domains for PEX6 Gene

Graphical View of Domain Structure for InterPro Entry

Q13608

UniProtKB/Swiss-Prot:

PEX6_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with PEX6: view

Function for PEX6 Gene

Molecular function for PEX6 Gene

GENATLAS Biochemistry:
peroxin 6,peroxisome biogenesis factor 6
UniProtKB/Swiss-Prot Function:
Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Gene Ontology (GO) - Molecular Function for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9588209
GO:0005524 ATP binding IMP 16854980
GO:0008022 protein C-terminus binding IPI 16854980
GO:0016887 ATPase activity IMP 8670792
GO:0032403 protein complex binding IDA 16854980
genes like me logo Genes that share ontologies with PEX6: view

Phenotypes for PEX6 Gene

GenomeRNAi human phenotypes for PEX6:
genes like me logo Genes that share phenotypes with PEX6: view

Human Phenotype Ontology for PEX6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PEX6 Gene

Localization for PEX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX6 Gene

Cytoplasm. Peroxisome membrane. Cell projection, cilium, photoreceptor outer segment. Note=Associated with peroxisomal membranes. Localized at the base of the outer segment of photoreceptor cells (PubMed:26593283). {ECO:0000269 PubMed:26593283}.

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 PEX6 gene
Compartment Confidence
peroxisome 5
cytosol 5
extracellular 2
golgi apparatus 2
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005737 cytoplasm IEA,IDA 8670792
GO:0005777 peroxisome IDA,IEA 11439091
GO:0005778 peroxisomal membrane IEA --
GO:0005829 cytosol IDA 16854980
genes like me logo Genes that share ontologies with PEX6: view

Pathways & Interactions for PEX6 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX6: view

Pathways by source for PEX6 Gene

1 KEGG pathway for PEX6 Gene

Gene Ontology (GO) - Biological Process for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome IMP 16854980
GO:0007031 peroxisome organization IMP 8940266
GO:0016561 protein import into peroxisome matrix, translocation IMP 8670792
GO:0050821 protein stabilization IMP 8670792
genes like me logo Genes that share ontologies with PEX6: view

No data available for SIGNOR curated interactions for PEX6 Gene

Drugs & Compounds for PEX6 Gene

(3) Drugs for PEX6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PEX6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PEX6: view

Transcripts for PEX6 Gene

mRNA/cDNA for PEX6 Gene

Unigene Clusters for PEX6 Gene

Peroxisomal biogenesis factor 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - -
SP5:
SP6:

Relevant External Links for PEX6 Gene

GeneLoc Exon Structure for
PEX6
ECgene alternative splicing isoforms for
PEX6

Expression for PEX6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX6 Gene

This gene is overexpressed in Bone (30.3) and Breast (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PEX6 Gene



NURSA nuclear receptor signaling pathways regulating expression of PEX6 Gene:

PEX6

SOURCE GeneReport for Unigene cluster for PEX6 Gene:

Hs.656425

mRNA Expression by UniProt/SwissProt for PEX6 Gene:

Q13608-PEX6_HUMAN
Tissue specificity: Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments.

Evidence on tissue expression from TISSUES for PEX6 Gene

  • Intestine(4.2)
  • Nervous system(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
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 PEX6: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for PEX6 Gene

Orthologs for PEX6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX6 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia PEX6 34 35
  • 89.59 (n)
cow
(Bos Taurus)
Mammalia PEX6 34 35
  • 89.05 (n)
mouse
(Mus musculus)
Mammalia Pex6 34 16 35
  • 84.56 (n)
rat
(Rattus norvegicus)
Mammalia Pex6 34
  • 83.91 (n)
oppossum
(Monodelphis domestica)
Mammalia PEX6 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
chicken
(Gallus gallus)
Aves PEX6 34 35
  • 68.08 (n)
lizard
(Anolis carolinensis)
Reptilia PEX6 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex6 34
  • 68.45 (n)
zebrafish
(Danio rerio)
Actinopterygii pex6 34 35
  • 58.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11919 36
  • 38 (a)
Pex6 35
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-6 36 35
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX6 35 37
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX6 34
  • 47.5 (n)
rice
(Oryza sativa)
Liliopsida Os04g0617600 34
  • 46.6 (n)
Os.25046 34
barley
(Hordeum vulgare)
Liliopsida Hv.8766 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1857 35
  • 45 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2307 34
Species where no ortholog for PEX6 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEX6 Gene

ENSEMBL:
Gene Tree for PEX6 (if available)
TreeFam:
Gene Tree for PEX6 (if available)

Paralogs for PEX6 Gene

(6) SIMAP similar genes for PEX6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PEX6: view

No data available for Paralogs for PEX6 Gene

Variants for PEX6 Gene

Sequence variations from dbSNP and Humsavar for PEX6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs267608244 Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] 42,965,294(-) CACCA(A/C)CAGAC nc-transcript-variant, reference, missense
rs34324426 Pathogenic, Heimler syndrome 2 (HMLR2) [MIM:616617] 42,967,450(+) TGAGC(C/T)GCTGC nc-transcript-variant, reference, missense
rs387906809 Pathogenic, Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] 42,968,377(-) CCTTC(C/T)GGGCC nc-transcript-variant, reference, missense
rs61753219 Pathogenic, Heimler syndrome 2 (HMLR2) [MIM:616617] 42,978,330(-) TGTCC(C/T)TGCCA intron-variant, nc-transcript-variant, reference, missense
rs61753224 Pathogenic, Heimler syndrome 2 (HMLR2) [MIM:616617] 42,967,537(-) GGCCA(C/T)CACAA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PEX6 Gene

Variant ID Type Subtype PubMed ID
esv3576145 CNV gain 25503493
esv3608809 CNV loss 21293372
nsv1017398 CNV gain 25217958
nsv462927 CNV loss 19166990
nsv602992 CNV loss 21841781
nsv830651 CNV loss 17160897

Variation tolerance for PEX6 Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.79; 91.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX6 Gene

Human Gene Mutation Database (HGMD)
PEX6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX6 Gene

Disorders for PEX6 Gene

MalaCards: The human disease database

(16) MalaCards diseases for PEX6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 4a
  • pbd4a
heimler syndrome 2
  • pbd4c
peroxisome biogenesis disorder 4b
  • pbd4b
deafness enamel hypoplasia nail defects
  • bilateral sensorineural hearing loss, enamel hypoplasia and nail defects
spinocerebellar ataxia, autosomal recessive 3
  • spinocerebellar ataxia autosomal recessive 3
- elite association - COSMIC cancer census association via MalaCards
Search PEX6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX6_HUMAN
  • Heimler syndrome 2 (HMLR2) [MIM:616617]: 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:19105186, ECO:0000269 PubMed:26387595, ECO:0000269 PubMed:27302843}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]: 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:10408779, ECO:0000269 PubMed:8670792}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 4B (PBD4B) [MIM:614863]: 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:11355018}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]: 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, ECO:0000269 PubMed:21937992, ECO:0000269 PubMed:26593283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX6
genes like me logo Genes that share disorders with PEX6: view

No data available for Genatlas for PEX6 Gene

Publications for PEX6 Gene

  1. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. (PMID: 8670792) Yahraus T. … Gould S.J. (EMBO J. 1996) 2 3 4 22 64
  2. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PMID: 19105186) Yik W.Y. … Hacia J.G. (Hum. Mutat. 2009) 3 4 22 64
  3. The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. (PMID: 11355018) Matsumoto N. … Fujiki Y. (J. Hum. Genet. 2001) 3 4 22 64
  4. Genomic structure and identification of 11 novel mutations of the PEX6 'peroxisome assembly factor-2' gene in patients with peroxisome biogenesis disorders. (PMID: 10408779) Zhang Z. … Kondo N. (Hum. Mutat. 1999) 3 4 22 64
  5. Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. (PMID: 8940266) Fukuda S. … Kondo N. (Am. J. Hum. Genet. 1996) 3 4 22 64

Products for PEX6 Gene

Sources for PEX6 Gene

Content
Loading form....