Battenin
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Related on Lably
Function
Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.
Battenin is a transmembrane protein predicted to be composed of 11 transmembrane helices, yet no crystal structure is available.
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Clinical significance
Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.
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