CLN6

CLN6

A gene on chromosome 15q23 that encodes a protein which may be involved in the breakdown of post-translationally modified proteins in lysosomes.

Molecular pathology
CLN6 mutations have been linked to Kufs disease, a type of neuronal ceroid lipofuscinoses.
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We will follow a novel integrated strategy to identify specific gene and small molecule treatments for three genetic types of Batten disease that include the most prevalent world-wide, juvenile CLN3 disease, and in southern and mediterranean Europe, CLN6 and CLN7 diseases.
A missense mutation in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.
Son yillarda ulkemizde gec infantil noronal seroid lipofusinozun Turk tipi tanimlanmis olup CLN6, CLN8 ve MFSD8 genlerinde mutasyonlar tespit edilebilmektedir (2).
Progress toward the cloning of CLN6, the gene underlying a variant LINCL.