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Gene Review

WDR36  -  WD repeat domain 36

Homo sapiens

Synonyms: GLC1G, T-cell activation WD repeat-containing protein, TA-WDRP, TAWDRP, UTP21, ...
 
 
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Disease relevance of WDR36

 

High impact information on WDR36

 

Biological context of WDR36

  • CLINICAL RELEVANCE: The finding that the WDR36 gene is probably not the responsible gene in this family further documents the genetic heterogeneity of POAG [4].
  • PURPOSE: To investigate in Australian patients with glaucoma and normal controls the prevalence and associated phenotype of the WDR36 D658G mutation, which has previously been suggested to be a disease-causing mutation in pedigrees with primary open-angle glaucoma (POAG) [5].
 

Other interactions of WDR36

  • CONCLUSIONS: Our results provided the mapping of a novel locus for JOAG at 5q and excluded coding or splicing junctions mutations within the WDR36 gene [6].
 

Analytical, diagnostic and therapeutic context of WDR36

References

  1. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Hauser, M.A., Allingham, R.R., Linkroum, K., Wang, J., LaRocque-Abramson, K., Figueiredo, D., Santiago-Turla, C., del Bono, E.A., Haines, J.L., Pericak-Vance, M.A., Wiggs, J.L. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  2. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Monemi, S., Spaeth, G., DaSilva, A., Popinchalk, S., Ilitchev, E., Liebmann, J., Ritch, R., Héon, E., Crick, R.P., Child, A., Sarfarazi, M. Hum. Mol. Genet. (2005) [Pubmed]
  3. A Genome-wide Scan Maps a Novel Juvenile-Onset Primary Open-Angle Glaucoma Locus to 15q. Wang, D.Y., Fan, B.J., Chua, J.K., Tam, P.O., Leung, C.K., Lam, D.S., Pang, C.P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  4. The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this region. Kramer, P.L., Samples, J.R., Monemi, S., Sykes, R., Sarfarazi, M., Wirtz, M.K. Arch. Ophthalmol. (2006) [Pubmed]
  5. A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant. Hewitt, A.W., Dimasi, D.P., Mackey, D.A., Craig, J.E. Am. J. Ophthalmol. (2006) [Pubmed]
  6. A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q. Pang, C.P., Fan, B.J., Canlas, O., Wang, D.Y., Dubois, S., Tam, P.O., Lam, D.S., Raymond, V., Ritch, R. Mol. Vis. (2006) [Pubmed]
 
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