Synthesized phosho peptide around human Myosin IIa (Ser1943)

This antibody detects endogenous levels of Human Myosin IIa (phospho-Ser1943)

MYH9

Myosin IIa (Ser1943)

Myosin-9 ;
Cellular myosin heavy chain,type A ;
Myosin heavy chain 9 ;
Myosin heavy chain,non-muscle IIa ;
Non-muscle myosin heavy chain A ;
NMMHC-A ;
Non-muscle myosin heavy chain IIa ;
NMMHC II-a ;
NMMHC-IIA ;

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] ,

Disease:Defects in MYH9 are the cause of Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]. APSM is an autosomal dominant disorder characterized by the association of ocular lesions , sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects. ,Disease:Defects in MYH9 are the cause of Epstein syndrome (EPS) [MIM:153650]. EPS is an autosomal dominant disorder characterized by the association of macrothrombocytopathy , sensorineural hearing loss and nephritis. ,Disease:Defects in MYH9 are the cause of Fechtner syndrome (FTNS) [MIM:153640]. FTNS is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia , giant platelets and leukocyte inclusions that are small and poorly organized. Additionally , FTNS is distinguished by Alport-like clinical features of sensorineural deafness , cataracts and nephritis. ,Disease:Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]. MPSD is an autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. ,Disease:Defects in MYH9 are the cause of May-Hegglin anomaly (MHA) [MIM:155100]. MHA is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia , giant platelets and leukokyte inclusions appearing as highly parallel paracrystalline bodies. ,Disease:Defects in MYH9 are the cause of non-syndromic sensorineural deafness autosomal dominant type 17 (DFNA17) [MIM:603622]. DFNA17 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear , the nerve pathways to the brain , or the area of the brain that receives sound information. DFNA17 is characterized by progressive hearing impairment and cochleosaccular degeneration. ,Disease:Defects in MYH9 are the cause of Sebastian syndrome (SBS) [MIM:605249]. SBS is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia , giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly. ,Disease:Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years , while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. The clinical course of patients with mutations in the four most frequently affected residues of MYH9 (responsible for 70% of MYH9-related cases) were evaluated. Mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly , those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age , while alterations at residue 1424 or 1841 result in intermediate clinical pictures. ,Domain:The rodlike tail sequence is highly repetitive , showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides , characteristic for alpha-helical coiled coils. ,Function:Cellular myosin that appears to play a role in cytokinesis , cell shape , and specialized functions such as secretion and capping. ,similarity:Contains 1 IQ domain. ,similarity:Contains 1 myosin head-like domain. ,subunit:Interacts with PDLIM2 (By similarity) . Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC) , 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2) . ,tissue specificity:In the kidney , expressed in the glomeruli. Also expressed in leukocytes. ,

Cytoplasm , cytoskeleton . Cytoplasm , cell cortex . Cytoplasmic vesicle , secretory vesicle , Cortical granule . Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells (PubMed:20052411) . In retinal pigment epithelial cells , predominantly localized to stress fiber-like structures with some localization to cytoplasmic puncta (PubMed:27331610) . .

>>Vascular smooth muscle contraction ;
>>Tight junction ;
>>Regulation of actin cytoskeleton ;
>>Pathogenic Escherichia coli infection