PEX5 Antibody – Mouse Monoclonal

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

PEX5: Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Defects in PEX5 are a cause of adrenoleukodystrophy neonatal (NALD). NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long- chain fatty acids, adrenal insufficiency and mental retardation. Inheritance is autosomal recessive. Defects in PEX5 are a cause of Zellweger syndrome (ZWS). 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. Defects in PEX5 may be a cause of infantile Refsum disease (IRD). IRD is a mild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Belongs to the peroxisomal targeting signal receptor family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Receptor, protein translocating

Chromosomal Location of Human Ortholog: 12p13.31

Cellular Component: Golgi apparatus; peroxisomal membrane; peroxisomal matrix; protein complex; membrane; cytoplasm; peroxisome; intracellular; cytosol

Molecular Function: protein C-terminus binding; small GTPase binding; protein binding; peroxisome targeting sequence binding; enzyme binding; peroxisome matrix targeting signal-1 binding; protein N-terminus binding

Biological Process: protein targeting to peroxisome; protein import into peroxisome matrix; protein import into peroxisome matrix, docking; protein import into peroxisome membrane; protein import into peroxisome matrix, translocation; protein tetramerization

Disease: Peroxisome Biogenesis Disorder 2a (zellweger); Peroxisome Biogenesis Disorder 2b