Species Human Entrez 1201 | Human Mouse Ensembl ENSG00000188603 | |
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Aliases CLN3, BTS, JNCL, ceroid-lipofuscinosis, neuronal 3, battenin External IDs OMIM: 607042 MGI: 107537 HomoloGene: 37259 GeneCards: CLN3 | ||
Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.
Contents
Function
Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.
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.
References
CLN3 Wikipedia(Text) CC BY-SA