| MYH9 |
| LOCUS ID | 4627 | ||||||||||
| GENE_SYMBOL | MYH9 | ||||||||||
| GENE NAME | myosin, heavy chain | ||||||||||
| SYNONYMNS | MHA, FTNS, EPSTS, BDPLT6, DF17, NMMHCA, NMHC-II-A, NMMHC-IIA | ||||||||||
| CHROMOSOME | 22 | ||||||||||
| HOMOLOGENE ID | 129835 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene encodes a conventiol non-muscle myosin; this protein should not be confused with the unconventiol myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintence of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal domint type 17, Epstein syndrome, Alport sy |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. MYH9 SNPs rs4821480, rs2032487, rs4281481 and rs3752462 are associated with T2DM-ESRD susceptibility in European Americans. The APOL1 risk variants are not present at appreciable frequency in this cohort with T2DM-ESRD. Therefore, polymorphisms in MYH9 appear to influence nephropathy risk in this sample. | 21968013 |