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This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being o... See more...
Aliases for PEX7 Gene
Aliases for PEX7 Gene
External Ids for PEX7 Gene
- HGNC: 8860
- Entrez Gene: 5191
- Ensembl: ENSG00000112357
- OMIM: 601757
- UniProtKB: O00628
Previous GeneCards Identifiers for PEX7 Gene
- GC06P136766
- GC06P136990
- GC06P137124
- GC06P137185
- GC06P134707
Summaries for PEX7 Gene
-
This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
GeneCards Summary for PEX7 Gene
PEX7 (Peroxisomal Biogenesis Factor 7) is a Protein Coding gene. Diseases associated with PEX7 include Rhizomelic Chondrodysplasia Punctata, Type 1 and Peroxisome Biogenesis Disorder 9B. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and peroxisome matrix targeting signal-2 binding. An important paralog of this gene is GEMIN5.
UniProtKB/Swiss-Prot Summary for PEX7 Gene
-
Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.
Additional gene information for PEX7 Gene
- Monarch Initiative
- Search for PEX7 at DataMed
- Search for PEX7 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX7 Gene
Genomics for PEX7 Gene
GeneHancer (GH) Regulatory Elements for PEX7 Gene
Promoters and enhancers for PEX7 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 PEX7 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEX7
- Top Transcription factor binding sites by QIAGEN in the PEX7 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- E2F
- E2F-1
- Pax-4a
- Pax-5
- PPAR-gamma1
- PPAR-gamma2
- YY1
Genomic Locations for PEX7 Gene
Genomic Locations for PEX7 Gene
- chr6:136,822,220-136,913,934
- (GRCh38/hg38)
- Size:
- 91,715 bases
- Orientation:
- Plus strand
- chr6:137,143,702-137,235,075
- (GRCh37/hg19)
- Size:
- 91,374 bases
- Orientation:
- Plus strand
Genomic View for PEX7 Gene
Genes around PEX7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q23.3 by HGNC
- 6q23.3 by Entrez Gene
- 6q23.3 by Ensembl
PEX7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PEX7 Gene
Proteins for PEX7 Gene
-
Protein details for PEX7 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00628-PEX7_HUMAN
- Recommended name:
- Peroxisomal targeting signal 2 receptor
- Protein Accession:
- O00628
- C0H5X6
Protein attributes for PEX7 Gene
- Size:
- 323 amino acids
- Molecular mass:
- 35892 Da
- Quaternary structure:
-
- Interacts with PEX5 (By similarity). Interacts with VWA8 (PubMed:30204880).
Protein Expression for PEX7 Gene
Post-translational modifications for PEX7 Gene
Other Protein References for PEX7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ PEX7 Antibody
- Creative Diagnostics Anti-PEX7 (aa 2-99) polyclonal antibody
- Creative Biolabs Hi-Affi™ Recombinant Rabbit Anti-PEX7 Monoclonal Antibody (DS2666AB)
-
Custom Antibody ServicesOriGene Antibodies for PEX7
- Novus Biologicals Antibodies for PEX7
-
Abcam antibodies for PEX7
- Invitrogen Antibodies for PEX7 (AFLGC-PEX7)
-
Boster Bio Antibodies for PEX7
Protein Products
-
OriGene Purified Proteins for PEX7
- Search Origene for MassSpec and Protein Over-expression Lysates for PEX7
- Origene Custom Protein Services for PEX7
- Novus Biologicals proteins for PEX7
No data available for DME Specific Peptides for PEX7 Gene
Domains & Families for PEX7 Gene
Gene Families for PEX7 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Transporters
Protein Domains for PEX7 Gene
- Blocks:
-
- G-protein beta WD-40 repeat signature
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PEX7 Gene
- GenScript: Design optimal peptide antigens:
-
- Peroxin-7 (PEX7_HUMAN)
- Peroxisomal biogenesis factor 7, isoform CRA_a (Q6FGN1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O00628- Family:
-
- Belongs to the WD repeat peroxin-7 family.
Function for PEX7 Gene
Molecular function for PEX7 Gene
- UniProtKB/Swiss-Prot Function:
- Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.
- GENATLAS Biochemistry:
- peroxin 7,peroxisome biogenesis factor 7,peroxisomal PTS2 receptor (peroxisome targetting signal 2),complementation group 11 (KKI)
Phenotypes From GWAS Catalog for PEX7 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005053 | peroxisome matrix targeting signal-2 binding | IDA | 9090381 |
| GO:0005515 | protein binding | IEA,IPI | 30204880 |
| GO:0019899 | enzyme binding | IPI | 11931631 |
| GO:0042803 | protein homodimerization activity | IDA | 11931631 |
Phenotypes for PEX7 Gene
- MGI mutant phenotypes for PEX7:
-
inferred from 2 alleles
- cardiovascular system phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for PEX7:
Animal Models for PEX7 Gene
- MGI Knock Outs for PEX7:
-
- Pex7 Pex7<tm1Rjaw>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PEX7 - Select products 50% OFF >
- * PEX7 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PEX7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PEX7
- genomics-online: gRNA clones - Search for available PEX7 gRNA products
- Overview of 167 available PEX7 gene related products
-
Recommended
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX7
miRNA for PEX7 Gene
- miRTarBase miRNAs that target PEX7
-
- hsa-mir-4668-5p (MIRT543231)
- hsa-mir-4263 (MIRT543232)
- hsa-mir-559 (MIRT543233)
- hsa-mir-548y (MIRT543234)
- hsa-mir-548w (MIRT543235)
- hsa-mir-548o-5p (MIRT543236)
- hsa-mir-548j-5p (MIRT543237)
- hsa-mir-548i (MIRT543238)
- hsa-mir-548h-5p (MIRT543239)
- hsa-mir-548d-5p (MIRT543240)
- hsa-mir-548c-5p (MIRT543241)
- hsa-mir-548bb-5p (MIRT543242)
- hsa-mir-548b-5p (MIRT543243)
- hsa-mir-548ay-5p (MIRT543244)
- hsa-mir-548au-5p (MIRT543245)
- hsa-mir-548as-5p (MIRT543246)
- hsa-mir-548ar-5p (MIRT543247)
- hsa-mir-548aq-5p (MIRT543248)
- hsa-mir-548ap-5p (MIRT543249)
- hsa-mir-548am-5p (MIRT543250)
- hsa-mir-548ak (MIRT543251)
- hsa-mir-548ae-5p (MIRT543252)
- hsa-mir-548ad-5p (MIRT543253)
- hsa-mir-548ab (MIRT543254)
- hsa-mir-548a-5p (MIRT543255)
- hsa-mir-548n (MIRT543256)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PEX7
- Browse OriGene Inhibitory RNA Products For PEX7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX7
- genomics-online: shRNA clones - Search for available PEX7 shRNA products
- Overview of 167 available PEX7 gene related products
-
Recommended
Clone Products
- Applied Biological Materials (abm): Clones for PEX7 - Select products 50% OFF >
- * PEX7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PEX7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PEX7
- genomics-online: cdna clones - Search for available PEX7 CDNA products
- Overview of 167 available PEX7 gene related products
-
Recommended
- orf clones - Search for available PEX7 ORF products
- Overview of 167 available PEX7 gene related products
-
Recommended
Cell Line Products
-
Horizon Cell Lines for PEX7
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX7 Gene
Localization for PEX7 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PEX7 Gene
- Peroxisome. Cytoplasm.
| Compartment | Confidence |
|---|---|
| peroxisome | 5 |
| cytosol | 5 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Vesicles (3)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005777 | peroxisome | IEA,IDA | 9090382 |
| GO:0005778 | peroxisomal membrane | TAS | -- |
| GO:0005782 | peroxisomal matrix | IDA | 11931631 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for PEX7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peroxisome | ||
Pathways by source for PEX7 Gene
1 KEGG pathway for PEX7 Gene
Interacting Proteins for PEX7 Gene
GPS-Prot Interaction Network for PEX7
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001764 | neuron migration | IEA | -- |
| GO:0001958 | endochondral ossification | IEA | -- |
| GO:0006625 | protein targeting to peroxisome | TAS | -- |
| GO:0006635 | fatty acid beta-oxidation | IEA | -- |
| GO:0007031 | peroxisome organization | IMP | 10022913 |
Transcripts for PEX7 Gene
mRNA/cDNA for PEX7 Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000318471 1454 bps (ENST00000318471.5)
- ENST00000367756 680 bps (ENST00000367756.8)
- ENST00000541292 945 bps (ENST00000541292.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PEX7 - Select products 50% OFF >
- * PEX7 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PEX7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PEX7
- genomics-online: gRNA clones - Search for available PEX7 gRNA products
- Overview of 167 available PEX7 gene related products
-
Recommended
-
Santa Cruz Biotechnology (SCBT) CRISPR for PEX7
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PEX7
- Browse OriGene Inhibitory RNA Products For PEX7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX7
- genomics-online: shRNA clones - Search for available PEX7 shRNA products
- Overview of 167 available PEX7 gene related products
-
Recommended
Clone Products
- Applied Biological Materials (abm): Clones for PEX7 - Select products 50% OFF >
- * PEX7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PEX7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PEX7
- genomics-online: cdna clones - Search for available PEX7 CDNA products
- Overview of 167 available PEX7 gene related products
-
Recommended
- orf clones - Search for available PEX7 ORF products
- Overview of 167 available PEX7 gene related products
-
Recommended
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - |
Relevant External Links for PEX7 Gene
- GeneLoc Exon Structure for
- PEX7
Expression for PEX7 Gene
This gene is overexpressed in Testis (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX7 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEX7
SOURCE GeneReport for Unigene cluster for PEX7 Gene:
Hs.280932mRNA Expression by UniProt/SwissProt for PEX7 Gene:
O00628-PEX7_HUMAN
Tissue specificity:
Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.
Evidence on tissue expression from TISSUES for PEX7 Gene
- Eye(4.1)
- Nervous system(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX7 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebrospinal fluid
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- mandible
- maxilla
- meninges
- mouth
- neck
- nose
- olfactory bulb
- skull
Thorax:
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- spleen
Pelvis:
- pelvis
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 vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for PEX7
-
OriGene qPCR primer pairs and template standards for PEX7
- genomics-online: primer clones - Search for available PEX7 Primer products
- Overview of 167 available PEX7 gene related products
-
Recommended
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PEX7 Gene
Orthologs for PEX7 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PEX7 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PEX7 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PEX7 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pex7 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pex7 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PEX7 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PEX7 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PEX7 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PEX7 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pex7 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pex7 31 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006264 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Pex7 31 30 |
|
OneToOne | |
| CG6486 32 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PEX7 33 31 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PEX7 30 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0245100 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for PEX7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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 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)
- worm (Caenorhabditis elegans)
Evolution for PEX7 Gene
- ENSEMBL:
- Gene Tree for PEX7 (if available)
- TreeFam:
- Gene Tree for PEX7 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PEX7: view image
Paralogs for PEX7 Gene
Variants for PEX7 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEX7 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 639671 | Pathogenic: Peroxisome biogenesis disorder 9B | 136,822,796(+) | G/A | SPLICE_DONOR_VARIANT | |
| 659636 | Likely Pathogenic: Peroxisome biogenesis disorder 9B | 136,845,637(+) | AAACCAGAGGTGAACA | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
| 667823 | Benign: not provided | 136,846,307(+) | T/C | INTRON_VARIANT | |
| 667824 | Benign: not provided | 136,866,468(+) | T/A | INTRON_VARIANT | |
| 667825 | Benign: not provided | 136,866,503(+) | G/A | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv6149n100 | CNV | gain | 25217958 |
| dgv6150n100 | CNV | loss | 25217958 |
| esv3571415 | CNV | loss | 25503493 |
| nsv965772 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.91;
18.83% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PEX7 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX7 Gene
Disorders for PEX7 Gene
(20) MalaCards diseases for PEX7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| rhizomelic chondrodysplasia punctata, type 1 |
|
|
| peroxisome biogenesis disorder 9b |
|
|
| refsum disease, classic |
|
|
| rhizomelic chondrodysplasia punctata |
|
|
| rhizomelic chondrodysplasia punctata, type 2 |
|
|
Search PEX7 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PEX7_HUMAN- Peroxisome biogenesis disorder complementation group 11 (PBD-CG11) [MIM:614879]: 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). Note=The disease is caused by mutations affecting the gene represented in this entry.
- Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100]: A peroxisome biogenesis disorder. It is 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:9090381}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]: A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure. {ECO:0000269 PubMed:12522768}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PEX7
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PEX7 Gene
Publications for PEX7 Gene
- PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. (PMID: 10673331) Braverman N … Valle D (Genomics 2000) 2 3 4 23 54
- Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (PMID: 9090381) Braverman N … Valle D (Nature genetics 1997) 2 3 4 23 54
- Identification of PEX7 as the second gene involved in Refsum disease. (PMID: 12522768) van den Brink DM … Wanders RJ (American journal of human genetics 2003) 3 4 23 54
- Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. (PMID: 9090383) Purdue PE … Lazarow PB (Nature genetics 1997) 3 4 23 54
- A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein. (PMID: 30204880) Niwa H … Fujiki Y (Journal of biochemistry 2018) 3 4 54
ExternalLinks
Products for PEX7 Gene
- Custom Antibody ServicesOriGene Antibodies for PEX7
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PEX7
- Search Origene for MassSpec and Protein Over-expression Lysates for PEX7
- Origene Custom Protein Services for PEX7
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PEX7
- Browse OriGene Inhibitory RNA Products For PEX7
- OriGene qPCR primer pairs for PEX7
- OriGene qPCR primer pairs and template standards for PEX7
- OriGene CRISPR knockouts for PEX7
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PEX7
- Sino Biological Human cDNA Clone for PEX7
- Browse Sino Biological Recombinant Proteins
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PEX7
- Novus Biologicals proteins for PEX7
- Browse Antibodies
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- Abcam antibodies for PEX7
- Find your target
- Browse Primary Antibodies
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- Invitrogen Antibodies for PEX7 (AFLGC-PEX7)
- VectorBuilder Custom and pre-made DNA vectors for PEX7 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PEX7 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PEX7 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PEX7 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PEX7
- antibodies-online: Show 10 available PEX7 Antibodies ranked by validation data
- Compare Top PEX7 Antibodies
- antibodies-online: Search results for available PEX7 related products ranked by validation data
- antibodies-online: Show 7 available PEX7 Proteins ranked by validation data
- Compare Top PEX7 Proteins
- Horizon Cell Lines for PEX7
- genomics-online: cdna clones - Search for available PEX7 CDNA products
- Overview of 167 available PEX7 gene related products
- Recommended
- orf clones - Search for available PEX7 ORF products
- Overview of 167 available PEX7 gene related products
- Recommended
- genomics-online: gRNA clones - Search for available PEX7 gRNA products
- Overview of 167 available PEX7 gene related products
- Recommended
- genomics-online: primer clones - Search for available PEX7 Primer products
- Overview of 167 available PEX7 gene related products
- Recommended
- genomics-online: shRNA clones - Search for available PEX7 shRNA products
- Overview of 167 available PEX7 gene related products
- Recommended
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PEX7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PEX7
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PEX7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX7
- Boster Bio Antibodies for PEX7
- Browse Boster Bio ELISA Kits
Sources for PEX7 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource
- (179) Signalway Antibody