Nonmuscle myosin heavy chain 9
The gene encodes a protein essential to the cytoskeleton. Mutations cause May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes, and deafness without any further symptoms (DFNA17).
Genetests:
Related Diseases:
References:
1. |
Heath KE et al. (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
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2. |
Lalwani AK et al. (2000) Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.
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3. |
Basile C et al. () Hereditary nephritis with macrothrombocytopenia: phenotypic variety and the genotypic defect.
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4. |
Balduini CL et al. (2002) Inherited thrombocytopenias: from genes to therapy.
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5. |
NCBI article
NCBI 4627
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6. |
OMIM.ORG article
Omim 160775
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7. |
Orphanet article
Orphanet ID 123628
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8. |
Wikipedia article
Wikipedia EN (MYH9)
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Update: Aug. 14, 2020