CLN3

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CLN3
Identifiers
Aliases CLN3, BTS, JNCL, ceroid-lipofuscinosis, neuronal 3, battenin
External IDs OMIM: 607042 MGI: 107537 HomoloGene: 37259 GeneCards: CLN3
RNA expression pattern
PBB GE CLN3 210859 x at fs.png

PBB GE CLN3 209275 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001146311
NM_009907
NM_001329789

RefSeq (protein)

NP_001139783.1
NP_034037.3
NP_001139783
NP_001316718
NP_034037

Location (UCSC) Chr 16: 28.48 – 28.5 Mb Chr 7: 126.57 – 126.59 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.[3][4]

Function[edit]

Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.[4]

Clinical significance[edit]

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[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM (Jun 2008). "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content". Pediatr Res. 63 (6): 625–31. doi:10.1203/PDR.0b013e31816fdc17. PMID 18317235. 
  4. ^ a b "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)". 

Further reading[edit]

External links[edit]