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Target intelligence / Profile preview
Ceroid-lipofuscinosis neuronal protein 6 (CLN6)
- Target
- CLN6
- Molecular classification
- Transmembrane protein, ER protein
01
Overview
CLN6 is a multi-pass transmembrane protein localized to the endoplasmic reticulum (ER). It forms an obligate complex with CLN8, called EGRESS, which is crucial for the trafficking of newly synthesized lysosomal enzymes from the ER to the Golgi. Mutations in CLN6 cause Neuronal Ceroid Lipofuscinosis type 6 (CLN6 disease), characterized by accumulation of undigested proteins/peptides within lysosomes and progressive neurodegeneration.
- Other names
- ceroid-lipofuscinosis, neuronal 6, late infantile, variantCLN4ACLN6_HUMANFLJ20561HsT18960nclf[1][7]
02
Biological functions
Lysosomal enzyme traffickingEGRESS complex componentProtein transport
03
Disease associations
Neurodegenerative diseaseNeuronal Ceroid Lipofuscinosis (CLN)Batten disease
04
Safety considerations
Mutations in CLN6 lead to neuronal ceroid lipofuscinosis type 6 (CLN6 disease), a progressive neurodegenerative disorder.
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