| 别名 | 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) |
| 基因名称 | Endogenous |
| 蛋白名称 | MYH9 |
| 推荐应用 | |
| 反应物种 | MYH9 |
| 存储缓冲液 | IHC 1:200-1:1000;WB 1:2000-1:10000;IF 1:200-1:1000;ELISA 1:5000-1:20000;IP 1:50-1:200; |
| Human Swissprot No. | 4627 |
| Mouse Gene ID | P35579 |
| Mouse Swissprot No. | 17886 |
| Rat Gene ID | 25745 |
| Rat Swissprot No. | Q62812 |
| 特异性 | Monoclonal |
| 稀释度 | Unmodified |
| 参考分子量 | 227kD |
| 预测分子量 | WB,IHC,IF,IP,ELISA |
| 运输及保存条件 | Protein A |
| 宿主 | 227kD |
| 同种型 | Rabbit |
| 背景介绍 | 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], |
| 细胞定位 | 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). . |
| 功能 | 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., |
| 纯化 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Clonality | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 修饰类型 | IgG,Kappa |
| 细胞定位 | 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). . |
| 组织表达 | In the kidney, expressed in the glomeruli. Also expressed in leukocytes. |
| 研究领域 | >>Vascular smooth muscle contraction;>>Tight junction;>>Regulation of actin cytoskeleton;>>Pathogenic Escherichia coli infection |
周一至周日 8:00-18:00
