Zellweger syndrome

Zellweger is a genetic hereditory disease affecting infants. Some of the signs are enlarged liver, high iron level in blood, affected vision, among others. Infants with Zellweger are said to have poor muscle tone, sometimes to the point of immobility.

There are at least 12 genes that are said to individually beresponsible for Zellweger syndrome. One of them is the homosapien peroxisomal biogenesis factor (PEX1) on chromosome 7. Its Gene ID is 5189.

The responsible genes code for the assembly for peroxisomes. The mutation in the genes results the absence of the peroxisomes. PEX1 gene encodes for a member of the AAA ATPase family that's associated with various cellular functions. The encoded protein belongs in the cytoplasm, but is often anchored to the peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisomal biogenesis.