Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.[5][6][7]

CLN5
Identifiers
AliasesCLN5, NCL, ceroid-lipofuscinosis, neuronal 5, intracellular trafficking protein, CLN5 intracellular trafficking protein
External IDsOMIM: 608102; MGI: 2442253; HomoloGene: 4738; GeneCards: CLN5; OMA:CLN5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006493
NM_001366624

NM_001033242

RefSeq (protein)

NP_006484
NP_001353553

NP_001028414

Location (UCSC)Chr 13: 76.99 – 77.02 MbChr 14: 103.31 – 103.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type (Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky–Bielschowsky disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM][7]

A human clinical trial of gene therapy for the CLN5 form of Batten disease began in 2022 through the University of Rochester, using vectors developed by the Hughes research lab in New Zealand.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102805Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022125Ensembl, 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. ^ Savukoski M, Kestila M, Williams R, Jarvela I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L (Oct 1994). "Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses". Am J Hum Genet. 55 (4): 695–701. PMC 1918303. PMID 7942847.
  6. ^ Klockars T, Savukoski M, Isosomppi J, Laan M, Jarvela I, Petrukhin K, Palotie A, Peltonen L (Sep 1996). "Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22". Genomics. 35 (1): 71–8. doi:10.1006/geno.1996.0324. PMID 8661106.
  7. ^ a b "Entrez Gene: CLN5 ceroid-lipofuscinosis, neuronal 5".
  8. ^ Biochemistry Do (2022-08-02). "Trial of world-first gene therapy for Batten disease". www.otago.ac.nz. Retrieved 2024-04-13.

Further reading

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