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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 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]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005053 | peroxisome matrix targeting signal-2 binding | IBA,IDA | 9090381 |
GO:0005515 | protein binding | IPI | 30204880 |
GO:0019899 | enzyme binding | IPI | 11931631 |
GO:0042803 | protein homodimerization activity | IDA | 11931631 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peroxisome |
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 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PEX7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PEX7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PEX7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pex7 30 17 31 |
|
OneToOne | |
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 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PEX7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pex7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pex7 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006264 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pex7 30 31 |
|
OneToOne | |
CG6486 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PEX7 31 33 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PEX7 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0245100 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639671 | Pathogenic: Rhizomelic chondrodysplasia punctata type 1; 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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
rhizomelic chondrodysplasia punctata, type 1 |
|
|
peroxisome biogenesis disorder 9b |
|
|
refsum disease, classic |
|
|
rhizomelic chondrodysplasia punctata |
|
|
rhizomelic chondrodysplasia punctata, type 2 |
|
|