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CLN6

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CLN6
Identifiers
AliasesCLN6, CLN4A, HsT18960, nclf, ceroid-lipofuscinosis, neuronal 6, late infantile, variant, transmembrane ER protein, CLN6 transmembrane ER protein, CLN6A
External IDsOMIM: 606725; MGI: 2159324; HomoloGene: 9898; GeneCards: CLN6; OMA:CLN6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

54982

76524

Ensembl

n/a

ENSMUSG00000032245

UniProt

Q9NWW5

n/a

RefSeq (mRNA)

NM_017882

NM_001033175

RefSeq (protein)

NP_060352

n/a

Location (UCSC)n/aChr 9: 62.75 – 62.76 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.[4][5][6]

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References

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032245 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, Williams RE (Jul 1997). "Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23". Hum Mol Genet. 6 (4): 591–5. doi:10.1093/hmg/6.4.591. PMID 9097964.
  5. ^ Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE (Jan 2002). "The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein". Am J Hum Genet. 70 (2): 537–42. doi:10.1086/338708. PMC 384927. PMID 11727201.
  6. ^ "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant".

Further reading

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