CLN3

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This article is about the human gene. For other uses, see Cln3 (disambiguation).
Ceroid-lipofuscinosis, neuronal 3
Identifiers
Symbols CLN3 ; BTS; JNCL
External IDs OMIM607042 MGI107537 HomoloGene37259 GeneCards: CLN3 Gene
RNA expression pattern
PBB GE CLN3 209275 s at tn.png
PBB GE CLN3 210859 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1201 12752
Ensembl ENSG00000188603 ENSMUSG00000030720
UniProt Q13286 Q61124
RefSeq (mRNA) NM_000086 NM_001146311
RefSeq (protein) NP_000077 NP_001139783
Location (UCSC) Chr 16:
28.48 – 28.5 Mb
Chr 7:
126.57 – 126.59 Mb
PubMed search [1] [2]

Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.[1][2]

Function[edit]

Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.[2]

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. ^ 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. 
  2. ^ a b "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)". 


Further reading[edit]

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