|
Background
|
Synonyms: BDPLT 6,BDPLT6,Cellular myosin heavy chain,Cellular myosin heavy chain type A,DFNA 17,DFNA17,EPSTS,FTNS,MGC104539,MHA,MYH 2A,MYH 9,MYH2A,MYH9,MYH9,MYHas8,MyHC 2A,MyHC IIa,MyHC2A,MyHCIIa,MYHSA 2,MYHSA2,Myosin 9,Myosin heavy chain 9,Myosin heavy chain 9 non muscle,Myosin heavy chain,Myosin heavy chain non muscle IIa,Myosin heavy chain nonmuscle IIa,Myosin heavy polypeptide 2,Myosin heavy polypeptide 9 non muscle,Myosin-9,Myosin9,NMHC II A,NMMHC A,NMMHC II a,NMMHC II-a,NMMHC IIA,NMMHC-A,NMMHC-IIA,NMMHCA,Non muscle myosin heavy chain A,Non muscle myosin heavy chain,Non muscle myosin heavy chain II A,Non muscle myosin heavy polypeptide 9,non-muscle IIa,Non-muscle myosin heavy chain A,Non-muscle myosin heavy chain IIa,Nonmuscle myosin heavy chain A,Nonmuscle myosin heavy chain II A,type A Background: 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.
|
