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CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant

Also known as: nclf; CLN4A; HsT18960

Summary

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]

Genomic context

Location:
15q23
Sequence:
Chromosome: 15; NC_000015.10 (68206992..68229742, complement)
Total number of exons:
7

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