GeneID: 79
Names
| Common Name: | PEX7 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 6 (NC_000006.12) | Locus: | NG_008462.1 (PEX7) |
| HUGO Symbol: | PEX7 | Full Name: | peroxisomal biogenesis factor 7 |
| Exons: | 10 | Introns: | 9 |
Description:
The encoded protein is a cytosolic receptor that interacts with peroxisomal targeting signal type 2 (PTS2)-containing proteins. These proteins are synthesized on cytosolic ribosomes and are carried to the peroxisomal membrane for import in a PEX7-dependent manner. Peroxisomal enzymes are involved in a variety of metabolic reactions, including fatty-acid oxidation and lipid synthesis. Defects in this gene cause peroxisome biogenesis disorders such as Rhizomelic chondrodysplasia punctata, Refsum disease, and Zellweger syndrome. Polymorphisms in this gene associated with HbF levels in sickle cell patients.
Synonyms: PTS2R , RD
Comments:
N/A
Number of entries/variants: 3
Publications / Origin
- Wyszynski DF, Baldwin CT, Cleves MA, Amirault Y, Nolan VG, Farrell JJ, Bisbee A, Kutlar A, Farrer LA, Steinberg MH, Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia., Cell. Mol. Biol. (Noisy-le-grand) , 50(1), 23-33, 2004
- Rodrigues TA, Alencastre IS, Francisco T, Brites P, Fransen M, Grou CP, Azevedo JE, A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway., Mol. Cell. Biol. , 34(15), 2917-28, 2014