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CLN6

From SNPedia

is agene
is mentioned by
Full nameceroid-lipofuscinosis, neuronal 6, late infantile, variant
EntrezGene54982
PheGenI54982
VariationViewer54982
ClinVarCLN6
dbSNP54982
SADR54982
HugeNav54982
wikipediaCLN6
googleCLN6
gopubmedCLN6
EVSCLN6
HEFalMpCLN6
MyGene2CLN6
23andMeCLN6
UniProtQ9NWW5
EnsemblENSG00000128973
OMIM606725
# SNPs24
 Max MagnitudeChromosome positionSummary
rs104894483068,214,373
rs104894484068,211,793
rs104894486068,209,639
rs121908079068,211,292
rs121908080068,211,699
rs143781303068,208,309
rs150001589068,214,309
rs154774633068,214,387
rs154774634068,211,853
rs154774635068,218,595
rs154774636068,229,568
rs28939384068,211,793
rs397515352068,211,844
rs76842226068,208,280
rs774543080068,211,765
rs786205065068,229,578
rs786205066068,211,258
rs786205067068,214,315
rs79472922068,208,239
rs796052351068,214,289
rs796052352068,211,857
rs796052354068,211,727
rs796052355068,211,673
rs796052356068,209,636

CLN6, ceroid-lipofuscinosis neuronal 6, encodes a protein expressed in the brain. Mutations cause Lipofuscinosis, types late-infantile aka type 6,and Kufs Disease (type 4A).

"Mutations in CLN6 are the major cause of recessive Kufs type A disease. The phenotypic differences between variant late-infantile NCL, previously found to be caused by CLN6, and Kufs type A disease are striking; there is a much later age at onset and lack of visual involvement in the latter." - [PMID 21549341] "Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6."

Note that 9 mutations primarily at the position of conserved amino acids, not (currently) in dbSNP. They are (using as reference sequence NM_017882.2):

  • c.200T>C (p.Leu67Pro), [rs154774633]
  • c.308G>A (p.Arg103Gln), ][rs154774634]]
  • c.139C>T (p.Leu47Phe), rs154774635
  • c.17G>C (p.Arg6Thr)
  • c.712T>A; 713T>C (p.Phe238Thr)
  • c.446G>A (p.Arg149His)
  • c.890delC (p.Pro297LeufsX53)
  • c.150C>G (p.Tyr50X)
  • c.231C>G (p.Asn77Lys)

Mutations in this gene and others have been found to cause the form of neuronal ceroid lipofuscinoses (NCLs) known as variant late-infantile NCL. However, there is no obvious difference between the distribution or location of mutations within the gene causing adult onset Kufs disease type A and the ones causing variant late-infantile NCL. There may well be modifying mutations affecting the phenotypes observed, in addition to effects on the CLN6 protein that are yet to be understood.

Wheeler et al. (2002) identified 6 different mutations in the CLN6 gene in patients with a variant form of late infantile CLN.

Sharp et al. (2003) identified 8 mutations in the CLN6 gene in patients with CLN6.

Kufs disease was described later. [PMID 21549341]