CLN6

Ceroid-lipofuscinosis, neuronal 6, late infantile, variant
Identifiers
Symbols CLN6 ; CLN4A; HsT18960; nclf
External IDs OMIM: 606725 MGI: 2159324 HomoloGene: 9898 GeneCards: CLN6 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 54982 76524
Ensembl ENSG00000128973 ENSMUSG00000032245
UniProt Q9NWW5 Q3U466
RefSeq (mRNA) NM_017882 NM_001033175
RefSeq (protein) NP_060352 NP_001028347
Location (UCSC) Chr 15:
68.21 – 68.26 Mb
Chr 9:
62.84 – 62.85 Mb
PubMed search

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.[1][2][3]

References

  1. 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.
  2. 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.
  3. "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant".

External links

Further reading


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