CLN3


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CLN3

A gene on chromosome 16p12.1 that encodes battenin, a protein involved in lysosomal function, which is defective in Batten-Spielmeyer-Vogt disease, a clinical form of neuronal ceroid lipofuscinosis.
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References in periodicals archive ?
In both assays, normal activities were found in samples from patients with CLN3, as would be expected.
Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995;82:949-57.
Under the terms of the agreement, REGENXBIO has granted Abeona an exclusive worldwide license with rights to sublicense, to REGENXBIO's NAV AAV9 vector for the development and commercialization of gene therapies for the treatment of MPS IIIA, MPS IIIB, CLN1 Disease and CLN3 Disease.
HIGH COPY SUPPRESSION ANALYSIS OF MIS-LOCALIZED G1 CYCLIN CLN3 IN THE BUDDING YEAST SACCHAROMYCES CEREVISIAE.
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative diseases that include infantile NCL (INCL; OMIM 256730, where the defective gene is CLN1), classical late infantile NCL (LINCL; OMIM 204500, where the defective gene is CLN2), two variant late infantile NCLs (OMIM 256731, where the defective gene is CLN5; and OMIM 601780, where the defective gene is CLN6), juvenile NCL (JNCL; OMIM 204200; defective gene, CLN3), a juvenile onset epilepsy with progressive mental retardation (EPMR; OMIM 600143; defective gene, CLN8), and adult NCL (Kufs disease; OMIM 204300; defective gene, CLN4) [reviewed in Ref.
The lead programs in CLN6, CLN3, and CLN8 Batten disease are potential first-to-market curative therapies for these diseases.