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CLN3

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CLN3
Identifiers
AliasesCLN3, BTS, JNCL, ceroid-lipofuscinosis, neuronal 3, battenin, BTN1, CLN3 lysosomal/endosomal transmembrane protein, battenin
External IDsOMIM: 607042 MGI: 107537 HomoloGene: 37259 GeneCards: CLN3
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16p12.1Start28,474,111 bp[1]
End28,495,575 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001146311
NM_009907
NM_001329789

RefSeq (protein)

NP_001139783
NP_001316718
NP_034037

Location (UCSC)Chr 16: 28.47 – 28.5 MbChr 7: 126.57 – 126.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 structurally and phylogenetically similarity to other SLC transporters.

Function

Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.[6]

Battenin is a transmembrane protein predicted to be composed of 11 transmembrane helices,[8] yet no crystal structure is available.

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.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188603 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030720 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM (June 2008). "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content". Pediatric Research. 63 (6): 625–31. doi:10.1203/PDR.0b013e31816fdc17. PMID 18317235.
  6. ^ a b "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)".
  7. ^ a b Perland E, Fredriksson R (March 2017). "Classification Systems of Secondary Active Transporters". Trends in Pharmacological Sciences. 38 (3): 305–315. doi:10.1016/j.tips.2016.11.008. PMID 27939446.
  8. ^ a b Perland E, Bagchi S, Klaesson A, Fredriksson R (September 2017). "Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression". Open Biology. 7 (9): 170142. doi:10.1098/rsob.170142. PMC 5627054. PMID 28878041.

Further reading

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CLN3
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