background:
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene.
Function:
Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes.
Subunit:
Interacts with DCTN1 and KIF3A. Interacts with RAB7A and RILP.
Subcellular Location:
Lysosome membrane; Multi-pass membrane protein. Late endosome
Post-translational modifications:
Highly glycosylated.
Farnesylation is important for trafficking to lysosomes.
DISEASE:
Defects in CLN3 are the cause of neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]; also known as Batten disease. A 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 hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3.
Similarity:
Belongs to the battenin family.
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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