battenin; protein CLN3; Batten disease protein (CLN3, BTS)

Structure

• belongs to the battenin family
• highly glycosylated

Compartment

• lysosome membrane; multi-pass membrane protein

Alternative splicing

• named isoforms=5
• additional isoforms seem to exist
• at least some isoforms may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Pathology

• defects in CLN3 are the cause of neuronal ceroid lipofuscinosis type 3 (Batten disease)

More general terms

• ceroid-lipofuscinosis neuronal protein
• transmembrane 8 protein
• glycoprotein
• phosphoprotein

Additional terms

• neuronal ceroid lipofuscinosis

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1201
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1201
• OMIM: https://mirror.omim.org/entry/204200
• OMIM: https://mirror.omim.org/entry/607042
• UniProt: http://www.uniprot.org/uniprot/Q13286.html