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Gene Review

CLN8  -  ceroid-lipofuscinosis, neuronal 8...

Homo sapiens

Synonyms: C8orf61, EPMR, FLJ39417, Protein CLN8
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Disease relevance of CLN8


High impact information on CLN8

  • Progressive epilepsy with mental retardation (EPMR, MIM 600143) was recently recognized as a new NCL subtype (CLN8) [3].
  • The family includes the protein product of CLN8, a gene mutated in progressive epilepsy with mental retardation [4].
  • The function of CLN3, CLN5, and CLN8 gene-encoded products is unknown, although their predicted amino acid sequences suggest they have a transmembrane topology [5].
  • These eight NCL forms resulted from 100 different mutations on genes CLN1to CLN8 causing different phenotypes ( [5].
  • Furthermore, a well studied spontaneously occurring autosomal recessive mouse mutant, motor neuron degeneration (mnd) mouse, is a homolog for CLN8 [6].

Biological context of CLN8

  • However mutation analysis has not so far identified a disease causing mutation within the coding or non-coding exons of CLN8 in the families [1].
  • The molecular genetic background of the Turkish vLINCL families not linked to CLN8 remains to be clarified [7].
  • Subsequently, the homologous mouse gene (Cln8) was sequenced and localized to the region of the mouse genome linked to motor neuron degeneration, mouse mnd [2].

Anatomical context of CLN8

  • The CLN8 gene that underlies EPMR encodes a novel transmembrane protein that localizes to the endoplasmic reticulum (ER) and ER-Golgi intermediate compartment [8].

Other interactions of CLN8

  • CLN3, CLN5, and CLN8 encode proteins of predicted transmembrane topology, whose function has not been characterized yet [9].
  • Two mutations have been described in animal genes (cln8/mnd, CTSD) [10].
  • Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8 [1].
  • These data indicate that CLN6 mutations, in addition to those of CLN8, should be considered a diagnostic alternative in Turkish vLINCL patients [11].
  • There is no apparent genotype-phenotype correlation among the Turkish patients with CLN8 mutations, although their phenotype is distinct from that of Finnish Northern epilepsy patients [7].


  1. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. Mitchell, W.A., Wheeler, R.B., Sharp, J.D., Bate, S.L., Gardiner, R.M., Ranta, U.S., Lonka, L., Williams, R.E., Lehesjoki, A.E., Mole, S.E. Eur. J. Paediatr. Neurol. (2001) [Pubmed]
  2. Northern epilepsy, a new member of the NCL family. Ranta, S., Lehesjoki, A.E. Neurol. Sci. (2000) [Pubmed]
  3. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M.B., Bonaldo, M.F., Hirvasniemi, A., de la Chapelle, A., Gilliam, T.C., Lehesjoki, A.E. Nat. Genet. (1999) [Pubmed]
  4. TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains? Winter, E., Ponting, C.P. Trends Biochem. Sci. (2002) [Pubmed]
  5. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Wisniewski, K.E., Zhong, N., Philippart, M. Neurology (2001) [Pubmed]
  6. Studies of homogenous populations: CLN5 and CLN8. Ranta, S., Savukoski, M., Santavuori, P., Haltia, M. Adv. Genet. (2001) [Pubmed]
  7. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustübütün, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W.A., Mole, S.E., Lehesjoki, A.E. Hum. Mutat. (2004) [Pubmed]
  8. Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study. Hermansson, M., Käkelä, R., Berghäll, M., Lehesjoki, A.E., Somerharju, P., Lahtinen, U. J. Neurochem. (2005) [Pubmed]
  9. Neuronal ceroid lipofuscinoses: classification and diagnosis. Wisniewski, K.E., Kida, E., Golabek, A.A., Kaczmarski, W., Connell, F., Zhong, N. Adv. Genet. (2001) [Pubmed]
  10. New mutations in the neuronal ceroid lipofuscinosis genes. Mole, S.E., Zhong, N.A., Sarpong, A., Logan, W.P., Hofmann, S., Yi, W., Franken, P.F., van Diggelen, O.P., Breuning, M.H., Moroziewicz, D., Ju, W., Salonen, T., Holmberg, V., Järvelä, I., Taschner, P.E. Eur. J. Paediatr. Neurol. (2001) [Pubmed]
  11. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. Siintola, E., Topcu, M., Kohlschütter, A., Salonen, T., Joensuu, T., Anttonen, A.K., Lehesjoki, A.E. Clin. Genet. (2005) [Pubmed]
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