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Gene Review

GLC1C  -  glaucoma 1, open angle, C

Homo sapiens

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Disease relevance of GLC1C


High impact information on GLC1C

  • This is the first report of mapping of an adult-onset POAG gene to chromosome 3q, gene symbol GLC1C [2].
  • Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way [3].
  • This represents the second POAG family linked to the GLC1C locus on chromosome 3q, and haplotype analysis in the two families suggests an independent origin of the genetic defect [4].
  • Based upon its homology with collagen-binding proteins, its expression in the trabecular meshwork, and its chromosome location, PCOLCE2 is a candidate gene for GLC1C [5].
  • METHODS: This Affymetrix GeneChip (Affymetrix, Santa Clara, Calif) study of gene expression in primary culture human trabecular meshwork cells uses a positional differential expression profile model for prioritization of candidate genes within the GLC1C genetic inclusion interval [6].

Biological context of GLC1C


  1. Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis. Samples, J.R., Kitsos, G., Economou-Petersen, E., Steinkamp, P., Sykes, R., Rust, K., Patzer, C., Grigoriadou, M., Aperis, G., Psilas, K., Petersen, M.B., Wirtz, M.K. Clin. Genet. (2004) [Pubmed]
  2. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Wirtz, M.K., Samples, J.R., Kramer, P.L., Rust, K., Topinka, J.R., Yount, J., Koler, R.D., Acott, T.S. Am. J. Hum. Genet. (1997) [Pubmed]
  3. A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. Petersen, M.B., Kitsos, G., Samples, J.R., Gaudette, N.D., Economou-Petersen, E., Sykes, R., Rust, K., Grigoriadou, M., Aperis, G., Choi, D., Psilas, K., Craig, J.E., Kramer, P.L., Mackey, D.A., Wirtz, M.K. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  4. Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. Kitsos, G., Eiberg, H., Economou-Petersen, E., Wirtz, M.K., Kramer, P.L., Aspiotis, M., Tommerup, N., Petersen, M.B., Psilas, K. Eur. J. Hum. Genet. (2001) [Pubmed]
  5. Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24. Xu, H., Acott, T.S., Wirtz, M.K. Genomics (2000) [Pubmed]
  6. Differential Expression Profile Prioritization of Positional Candidate Glaucoma Genes: The GLC1C Locus. Rozsa, F.W., Scott, K.M., Pawar, H., Samples, J.R., Wirtz, M.K., Richards, J.E. Arch. Ophthalmol. (2007) [Pubmed]
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