CLN5

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CLN5
Identifiers
Aliases CLN5, NCL, ceroid-lipofuscinosis, neuronal 5
External IDs MGI: 2442253 HomoloGene: 4738 GeneCards: CLN5
RNA expression pattern
PBB GE CLN5 204084 s at fs.png

PBB GE CLN5 204085 s at fs.png

PBB GE CLN5 214252 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006493

NM_001033242

RefSeq (protein)

NP_006484

NP_001028414.1
NP_001028414

Location (UCSC) Chr 13: 76.99 – 77.02 Mb Chr 14: 103.07 – 103.08 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.[3][4][5]

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][5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 1918303Freely accessible. PMID 7942847. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: CLN5 ceroid-lipofuscinosis, neuronal 5". 

External links[edit]

Further reading[edit]