Peroxin-7
Peroxin-7 is a protein that in humans is encoded by the PEX7 gene. The protein encoded by this gene is a cytosolic protein which belongs to a family of peroxin (PEX) proteins involved in the import of proteins into peroxisomes.
Function[edit | edit source]
Peroxin-7 is involved in the import of proteins into peroxisomes. Peroxisomes are single-membrane organelles in eukaryotic cells that are involved in the metabolism of fatty acids, polyamines, and other metabolites. Peroxin-7 functions as a receptor for peroxisomal targeting signal 2 (PTS2), a sequence present in the proteins destined for import into the peroxisome.
Clinical significance[edit | edit source]
Mutations in the PEX7 gene are associated with Rhizomelic chondrodysplasia punctata type 1 (RCDP1), a rare autosomal recessive disorder characterized by skeletal abnormalities, growth retardation, and congenital cataracts.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- Peroxin-7 at WikiMD
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Contributors: Prab R. Tumpati, MD
