Immunogen sequence: PGDTAKDALF ASQEKFFQEL FDSELASQAT AEFEKAMKEL AEEEPHLVEQ FQKLSEAAGR VGSDMTSQQE
This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS).
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Protein Aliases: 33 kDa housekeeping protein; D1S2223E; HK33; housekeeping gene, 33kD; Peroxin-19; Peroxisomal biogenesis factor 19; Peroxisomal farnesylated protein; PMP1; PMPI; PXF; PXMP1
Gene Aliases: D1S2223E; HK33; OK/SW-cl.22; PBD12A; PEX19; PMP1; PMPI; PXF; PXMP1
UniProt ID: (Human) P40855
Entrez Gene ID: (Human) 5824
Molecular Function: storage protein