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This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008].
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Protein Aliases: Bis(monoacylglycero)phosphate synthase CLN5; BMP synthase CLN5; ceroid-lipofuscinosis; Ceroid-lipofuscinosis neuronal protein 5; ceroid-lipofuscinosis neuronal protein 5 homolog; Palmitoyl protein thioesterase CLN5; Protein CLN5; S-depalmitoylase CLN5
Gene Aliases: A730075N08Rik; BMPS; CLN5; NCL
UniProt ID: (Human) O75503, (Mouse) Q3UMW8
Entrez Gene ID: (Human) 1203, (Rat) 306128, (Mouse) 211286
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