CLN6
Involvement in disease
Ceroid lipofuscinosis, neuronal, 6
CLN6
An autosomal recessive form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
None
The disease is caused by variants affecting the gene represented in this entry.
Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive
CLN4A
An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Endoplasmic reticulum
Alternative names
Ceroid-lipofuscinosis neuronal protein 6, Protein CLN6, CLN6