基因名:
OPA1
产品别名:
BERHS; MGM1; MTDPS14; NPG; NTG; largeG; OPA1; OPA1 mitochondrial dynamin like GTPase; OPA1 mitochondrial dynamin like GTPase; dynamin-like 120 kDa protein, mitochondrial; dynamin-like guanosine triphosphatase; mitochondrial dynamin-like GTPase; optic atrophy 1 (autosomal dominant); optic atrophy protein 1; 视神经萎缩相关蛋白1; 视神经萎缩蛋白1(OPA1);
背景信息:
OPA1 is a 120kDa protein belonging to the dynamin family. The OPA1 gene has been localized to 3q29. The gene is targeted to mitochondria and is involved in mitochondrial biogenesis. Defects in OPA1 are a cause of optic atrophy type 1. OPA1 is mostly expressed in retina but can also be expressed in brain, testis, heart and skeletal muscle.