肉豆蔻酸异丙酯CAS号：110-27-0价格

ccumulation of lysosome derived fluorescent bodies found in many cells, especially neurons. Symptoms of NCL include a failure of psychomotor development, seizures, impaired vision and premature death. The eight genes/proteins associated with NCL are designated CLN1-CLN8. Mutations in six of these genes results in a distinct type of NCL-disease; the six genes/proteins are CLN1 (encoding PPT1, a protein thiolesterase), CLN2 (encodeing the serine protease TPP1), CLN3, CLN5, CLN6 and CLN8. A single base duplication mutation in dog and cow CLN5 has been shown to cause NCL.

Subcellular Location : Lysosome.

Tissue Specificity : Ubiquitous.

Post-translational modifications : Glycosylated.

DISEASE : Defects in CLN5 are the cause of neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]; also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). A 肉豆蔻酸异丙酯CAS号：110-27-0价格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 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.