The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6
نویسندگان
چکیده
منابع مشابه
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), neonatal adrenoleucodystrophy (NALD) and infantile Refsum disease (IRD), are fatal autosomal recessive diseases caused by impaired peroxisome biogenesis, of which 12 genotypes have been reported. ZS patients manifest the severest clinical and biochemical abnormalities, whereas those with NALD and IRD show less severi...
متن کاملPEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.
The peroxisome-biogenesis disorders (PBDs) are a genetically and phenotypically diverse group of diseases caused by defects in peroxisome assembly. One of the milder clinical variants within the PBDs is neonatal adrenoleukodystrophy (NALD), a disease that is usually associated with partial defects in the import of peroxisomal matrix proteins that carry the type 1 or type 2 peroxisomal targeting...
متن کاملPex15p of Saccharomyces cerevisiae provides a molecular basis for recruitment of the AAA peroxin Pex6p to peroxisomal membranes.
The gene products (peroxins) of at least 29 PEX genes are known to be necessary for peroxisome biogenesis but for most of them their precise function remains to be established. Here we show that Pex15p, an integral peroxisomal membrane protein, in vivo and in vitro binds the AAA peroxin Pex6p. This interaction functionally interconnects these two hitherto unrelated peroxins. Pex15p provides the...
متن کاملPex15p of Saccharomyces cerevisiae provides the molecular basis for recruitment of the AAA peroxin Pex6p to peroxisomal membranes
The gene products (peroxins) of at least 25 PEX genes are known to be necessary for peroxisome biogenesis but for most of them their precise function remains to be established. Here we show that Pex15p, an integral peroxisomal membrane protein, in vivo and in vitro binds the AAA peroxin Pex6p. This interaction functionally interconnects these two hitherto unrelated peroxins. Pex15p provides the...
متن کاملPeroxisomal Biogenesis: Genetic Disorders Reveal the Mechanisms
Peroxisomes are small and abundant membrane-bound organelles that contain enzymes for a variety of metabolic functions, including ß-oxidation of fatty acids, synthesis of plasmalogens and bile acids, and H2O2 production (1, 2). A group of human genetic diseases involves peroxisomal disorders (3) derived from two type of alterations: i) defects in a single peroxisomal enzyme, as found in X-Linke...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2001
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380170078