CLN3

120112752ENSG00000188603ENSMUSG00000030720Q13286Q61124NM_001286109NM_001146311NM_009907NM_001329789NP_001273039NP_001139783NP_001316718NP_034037Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16. Battenin is not clustered into any Pfam clan, but it is included in the TCDB suggesting that it is a transporter. In humans, it belongs to the atypical SLCs due to its structurally and phylogenetically similarity to other SLC transporters. Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16. Battenin is not clustered into any Pfam clan, but it is included in the TCDB suggesting that it is a transporter. In humans, it belongs to the atypical SLCs due to its structurally and phylogenetically similarity to other SLC transporters. 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. 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.