Battenin (BTS)
CLN3; JNCL; Ceroid-Lipofuscinosis,Neuronal 3,Juvenile; Batten,Spielmeyer-Vogt Disease; Juvenile Neuronal Ceroid Lipofuscinosis
 HGNC 2074
 MGI 107537
 PubMed 18317235
 RGD 1359537
 UniProt Q13286
 USCN G772
 Wiki Battenin
Battenin (BTS)
CLN3 is commonly referred to as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene.The consortium used exon amplification of a cosmid that contained D16S298, which yielded a candidate gene that was disrupted by a 1-kb genomic deletion in all patients carrying the 56 chromosome. Three separate deletions and a point mutation altering a splice site in 3 unrelated families confirmed the candidate as the CLN3 gene. The disease gene encodes a deduced 438-amino acid protein.
Organism species: Homo sapiens (Human)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a
Organism species: Mus musculus (Mouse)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a
Organism species: Rattus norvegicus (Rat)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a