Family

Ceroid-lipofuscinosis neuronal protein 6 (IPR029255)

Short name: CLN6

Family relationships

None.

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 [PMID: 19235893]. A link between CLN6 expression and biometal homeostasis has been suggested [PMID: 23789114].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PANTHER