Battenin
Protein found in humans
From Wikipedia, the free encyclopedia
Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.[5][6] Battenin is not clustered into any Pfam clan, but it is included in the TCDB suggesting that it is a transporter.[7] In humans, it belongs to the atypical SLCs[7][8] due to its structural and phylogenetic similarity to other SLC transporters.
AliasesCLN3, BTS, JNCL, ceroid-lipofuscinosis, neuronal 3, battenin, BTN1, CLN3 lysosomal/endosomal transmembrane protein, battenin
External IDsOMIM: 607042; MGI: 107537; HomoloGene: 37259; GeneCards: CLN3; OMA:CLN3 - orthologs
Function
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.