3mk4

Structural highlights

Disease

PEX3_HUMAN Defects in PEX3 are the cause of peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:614882; also known as PBD-CGG. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies.^[1] Defects in PEX3 are a cause of peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882. A fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.^{[2] [3]}

Function

PEX3_HUMAN Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.^{[4] [5]}

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

1. ↑ Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. Am J Hum Genet. 2000 Oct;67(4):967-75. Epub 2000 Aug 24. PMID:10958759 doi:S0002-9297(07)63288-1
2. ↑ Ghaedi K, Tamura S, Okumoto K, Matsuzono Y, Fujiki Y. The peroxin pex3p initiates membrane assembly in peroxisome biogenesis. Mol Biol Cell. 2000 Jun;11(6):2085-102. PMID:10848631
3. ↑ Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. Am J Hum Genet. 2000 Oct;67(4):967-75. Epub 2000 Aug 24. PMID:10958759 doi:S0002-9297(07)63288-1
4. ↑ Ghaedi K, Tamura S, Okumoto K, Matsuzono Y, Fujiki Y. The peroxin pex3p initiates membrane assembly in peroxisome biogenesis. Mol Biol Cell. 2000 Jun;11(6):2085-102. PMID:10848631
5. ↑ Fang Y, Morrell JC, Jones JM, Gould SJ. PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins. J Cell Biol. 2004 Mar 15;164(6):863-75. Epub 2004 Mar 8. PMID:15007061 doi:10.1083/jcb.200311131