功能： disease:Defects in PEX6 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 PEX6 are the cause of peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]; also known as PBD-CGC. 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. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.,similarity:Belongs to the AAA ATPase family.,subcellular location:Associated with peroxisomal membranes.,subunit:Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm. Peroxisome membrane . Cell projection, cilium, photoreceptor outer segment . Associated with peroxisomal membranes. Localized at the base of the outer segment of photoreceptor cells (PubMed:26593283). .
组织表达： Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments.
功能： disease:Defects in PEX6 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 PEX6 are the cause of peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]; also known as PBD-CGC. 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. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.,similarity:Belongs to the AAA ATPase family.,subcellular location:Associated with peroxisomal membranes.,subunit:Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm. Peroxisome membrane . Cell projection, cilium, photoreceptor outer segment . Associated with peroxisomal membranes. Localized at the base of the outer segment of photoreceptor cells (PubMed:26593283). .
组织表达： Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments.
在线咨询
湘公网安备