菜单 基因医生

这个基因编码的蛋白质是属于肌球蛋白重链家族的平滑肌肌球蛋白。该基因产物是由两个重链亚基和两对不完全相同的轻链亚基组成的六聚体蛋白质的亚基它是一种主要的收缩蛋白，通过水解ATP将化学能转化为机械能编码大鼠nude1人类同源基因的基因从该基因的反链转录而来，其3'端与后者重叠。16号染色体（inv（16）（p13q22））的中心周倒置产生一个嵌合转录本，该转录本编码一种蛋白质，该蛋白质由来自核心结合因子βN末端的前165个残基与平滑肌肌球蛋白重链的C末端部分融合而成这种染色体重排与M4Eo亚型急性髓性白血病有关选择性剪接产生差异表达的亚型，比例在肌肉细胞成熟过程中变化。另外，还发现了编码不同亚型的剪接转录变体。[由RefSeq提供，2008年7月]
The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]