| Primary Identifier | IPR029255 | Type | Family |
| Short Name | CLN6 |
| description | Mutations in CLN6 (ceroid-lipofuscinosis neuronal protein 6) cause variant late-onset neuronal ceroid lipofuscinosis (vLINCL), a childhood neurodegenerative disorder (CLN6). Alterations in neurite maturation resulting from a loss of CLN6 interaction with protein CRMP2, which has been implicated in controlling axon number and outgrowth, may contribute to this neuronal pathology []. A link between CLN6 expression and biometal homeostasis has been suggested []. |
