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Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN3

Definition : Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis, neuronal 3 (CLN3) gene, located at chromosome 16p12.1, which encodes for a polypeptide that may function as a chaperone involved in the folding/unfolding or assembly/disassembly of other proteins, specifically subunit C of the ATP synthase complex. Mutations at this locus have been identified in patients with Batten disease and infantile early-onset neuronal ceroid-lipofuscinoses (NCL) type 3.

Entry Terms : "NCL-3 Related Neuronal Ceroid-Lipofuscinoses Gene Mutation Detection Reagents" , "Ceroid Lipofuscinosis Gene Mutation Detection Reagents" , "Neuronal Ceroid-Lipofuscinoses (NCL) Gene Mutation Detection Reagents" , "Palmitoyl-Protein Thioesterase 1 (PPT1) Gene Mutation Detection Reagents" , "CLN3 Gene Mutation Detection Reagents"

UMDC code : 24345

   

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