Pex5, Rabbit, Polyclonal Antibody, Abnova, Rabbit Polyclonal Antibody Raised Against Recombinant Pex5, Each

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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 refseqsequence: davdvtqdynetdwsqefisevtdplsvsparwaeeyleqseeklwlgepegtatdrwydeyhpeedlqhtasdfvakvddpkla