Immunogen sequence: LVFPLEWFPL NKPSVGDYFH MAYNVITPFL LLKLIERSPR TLPRSIT
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: ceroid-lipofuscinosis neuronal 6 late infantile; Ceroid-lipofuscinosis neuronal protein 6; FLJ20561; HsT18960; nclf; Protein CLN6
Gene Aliases: CLN4A; CLN6; HsT18960; nclf
UniProt ID: (Human) Q9NWW5
Entrez Gene ID: (Human) 54982