MYH9 (Entrez ID: 4627)

Entrez Gene ID 4627
Official Gene Symbol MYH9 (GeneCards)
Full name myosin heavy chain 9
Location 22q12.3
Other ids Vega : OTTHUMG00000030429
MIM : 160775
HGNC : HGNC:7579
Ensembl : ENSG00000100345
Other names MHA, FTNS, EPSTS, BDPLT6, DFNA17, MATINS, NMMHCA, NMHC-II-A, NMMHC-IIA
Summary This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional 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 maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

Variants

Found 8 variants in this database.