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  • Molecular assay reagents intended to identify mutations in the peroxisomal membrane protein 3, 35kDa (PXMP3) gene, located at chromosome 8q21.1, which encodes for a protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. This genetic mutation has been identified in patients with Zellweger syndrome spectrum, including three well-differentiated forms: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum\'s disease (IRD).
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