Peroxisome biogenesis in mammalian cells.
Fukuoka, Japan. In Front Physiol, 2013
In matrix protein import, newly synthesized proteins harboring peroxisome targeting signal type 1 or 2 are recognized by Pex5p or Pex7p in the cytoplasm and are imported to peroxisomes via translocation machinery.
Seattle, United States. In Unknown Journal, 2006
Confirmation of the diagnosis requires either (1) molecular genetic testing to identify biallelic pathogenic variants in either PHYH (encoding phytanoyl-CoA hydroxylase), which accounts for more than 90% of Refsum disease, or PEX7 (encoding the PTS2 receptor), which accounts for less than 10% of Refsum disease; or (2) enzyme analysis to identify deficiency of either phytanoyl-CoA hydroxylase enzyme activity or the peroxisome-targeting signal type 2 receptor.
Rhizomelic Chondrodysplasia Punctata Type 1
Seattle, United States. In Unknown Journal, 2001
Biochemical tests of peroxisome function include: red blood cell concentration of plasmalogens (deficient), plasma concentration of phytanic acid (elevated), and plasma concentration of very long chain fatty acids (VLCFA) (normal), which has consistently predicted the PEX7 receptor defect in RCDP1.
Identification of PAHX, a Refsum disease gene.
Baltimore, United States. In Nat Genet, 1997
Human PAHX is targetted to peroxisomes, requires the PTS2 receptor for peroxisomal localization, interacts with the PTS2 receptor in the yeast two-hybrid assay and has intrinsic phytanoyl-CoA alpha-hydroxylase activity that requires the dioxygenase cofactor iron and cosubstrate 2-oxoglutarate.