功能： disease:Defects in PEX3 are a cause of Zellweger syndrome (ZwS) [MIM:214100]. ZWS is 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.,disease:Defects in PEX3 are the cause of peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:603164]; 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.,function: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.,similarity:Belongs to the peroxin-3 family.,subunit:Interacts with PEX19.,tissue specificity:Found in all examined tissues.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Peroxisome membrane ; Multi-pass membrane protein .
功能： disease:Defects in PEX3 are a cause of Zellweger syndrome (ZwS) [MIM:214100]. ZWS is 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.,disease:Defects in PEX3 are the cause of peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:603164]; 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.,function: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.,similarity:Belongs to the peroxin-3 family.,subunit:Interacts with PEX19.,tissue specificity:Found in all examined tissues.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Peroxisome membrane ; Multi-pass membrane protein .
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