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  • Human MYH9 wild-type allele is located in the vicinity of 22q13.1 and is approximately 107 kb in length. This allele, which encodes myosin-9 protein, plays a role in both cytokinesis and cell shape. Mutation of the gene is associated with May-Hegglin anomaly, non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness and non-diabetic end stage renal disease. A chromosomal translocation t(2;22)(p23;q12) of this gene and the ALK gene is associated with anaplastic large cell lymphoma.
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