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

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

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

• Peroxisome
• Peroxisomal targeting signal 2
• Rhizomelic chondrodysplasia punctata

References

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External links

• Peroxin-7 at WikiMD

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