Doublecortin domain-containing protein 2
The DCDC2 gene encodes a protein involved in microtubule organization and signal transduction of the primary cilium. Mutations are responsible for neuronal developmental disorders such as dyslexia, and autosomal recessive ciliopathy nephronophthisis 19.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Schueler M et al. (2015) DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
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2. |
Hirosawa M et al. (1999) Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
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3. |
Van Den Eynde BJ et al. (1999) A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription.
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4. |
Meng H et al. (2005) DCDC2 is associated with reading disability and modulates neuronal development in the brain.
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5. |
Schumacher J et al. (2006) Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.
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6. |
Meng H et al. (2011) A dyslexia-associated variant in DCDC2 changes gene expression.
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7. |
Orphanet article
Orphanet ID 434377
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8. |
NCBI article
NCBI 51473
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9. |
OMIM.ORG article
Omim 605755
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10. |
Wikipedia article
Wikipedia EN (DCDC2)
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Update: Aug. 14, 2020