MYH9
LOCUS ID4627
GENE_SYMBOLMYH9
GENE NAMEmyosin, heavy chain 9, non-muscle
SYNONYMNSMHA, FTNS, EPSTS, BDPLT6, DF17, NMMHCA, NMHC-II-A, NMMHC-IIA
CHROMOSOME22
HOMOLOGENE ID129835
microRNAsNANA
GENE SUMMARY
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 syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. 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