Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

WD repeat-containing protein 36

The WDR36 gene encodes a member of the WD repeat family, which may be involved in cell cycle and gene regulation, signal transduction, and apoptosis. Mutations cause autosomal dominant glaucome 1G.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Open angle glaucoma 1G
WDR36

References:

1.

Monemi S et al. (2005) Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

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2.

Fingert JH et al. (2007) No association between variations in the WDR36 gene and primary open-angle glaucoma.

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3.

Pasutto F et al. (2008) Profiling of WDR36 missense variants in German patients with glaucoma.

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4.

Mao M et al. (2004) T lymphocyte activation gene identification by coregulated expression on DNA microarrays.

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5.

Bernstein KA et al. (2004) The small-subunit processome is a ribosome assembly intermediate.

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6.

Skarie JM et al. (2008) The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway.

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7.

Footz TK et al. (2009) Glaucoma-associated WDR36 variants encode functional defects in a yeast model system.

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8.

NCBI article

NCBI 134430 [^]
9.

OMIM.ORG article

Omim 609669 [^]
10.

Wikipedia article

Wikipedia EN (WDR36) [^]
Update: April 29, 2019