PEX7 Chromosome 6
Peroxisomal biogenesis factor 7
Upload your DNA to see your personal genotypes for variants in PEX7.
What This Gene Does
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]
Gene Info
Gene Group
"WD repeat domain containing|Peroxins"
Locus Type
gene with protein product
Location
6q23.3
Ensembl
ENSG00000112357
Associated Conditions (15)
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Inborn genetic diseases
PEX7-related disorder
Phytanic acid storage disease
Retinal dystrophy
Peroxisome biogenesis disorder
Rhizomelic chondrodysplasia punctata
Connective tissue disorder
Abnormality of metabolism/homeostasis
Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata
Ovarian serous cystadenocarcinoma
Nonpapillary renal cell carcinoma
Melanoma
Retinal disorder
Key Variants
RS1464741803
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
Health Risk
RS1466368201
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
Health Risk
RS147298444
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Inborn genetic diseases
Health Risk
RS1554333880
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
Health Risk
RS186705952
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
Health Risk
RS191969418
Conflicting classifications of pathogenicity
Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
Health Risk
RS199552223
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, PEX7-related disorder
Health Risk
RS199648976
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 1, PEX7-related disorder, Inborn genetic diseases
Health Risk
RS267608255
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 9B, Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1
Health Risk
RS267608257
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, PEX7-related disorder
Health Risk
RS368225510
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata, Inborn genetic diseases
Health Risk
RS369653173
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
Health Risk
All Variants (139)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1775078845 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2115129048 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2115131765 | Health Risk | Likely pathogenic | Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis |
| RS2115216571 | Health Risk | Likely pathogenic | Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata, Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata |
| RS2548068762 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS2548068889 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548068920 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS2548071249 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548072023 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS2548072028 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B |
| RS2548072047 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548072160 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS2548072230 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS2548082631 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548082658 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548082672 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS2548082731 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548082750 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548095304 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548095308 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS2548095371 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS2548095417 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548095423 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS2548096639 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B |
| RS267608252 | Health Risk | Likely pathogenic | Phytanic acid storage disease, Peroxisome biogenesis disorder 9B, Phytanic acid storage disease |
| RS267608256 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Ovarian serous cystadenocarcinoma, Peroxisome biogenesis disorder 9B |
| RS61753240 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS62653608 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS769137963 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS773406384 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B |
| RS778862698 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Nonpapillary renal cell carcinoma |
| RS780751870 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 9B, Melanoma, Peroxisome biogenesis disorder 9B |
| RS1057516827 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1 |
| RS1057516961 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1 |
| RS1057517059 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS1190462422 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS121909153 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata |
| RS121909154 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata |
| RS1306724935 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS1456007349 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS148591292 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, PEX7-related disorder |
| RS1554328993 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS1554331461 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS1554333636 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS1554335937 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1 |
| RS1774099032 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS1774102216 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |
| RS1774596232 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 9B |
| RS1805137 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, PEX7-related disorder |
| RS2115122515 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B |