蛋白质/抗原/多肽 >> 重组蛋白
重组先天性脂肪代谢障碍蛋白2(常染色体显性遗传痉挛性截瘫17)
半岛bd体育手机客户端 介绍
基因名:
Bscl2 半岛bd体育手机客户端 别名: 2900097C17Rik; AI046355; Gng3lg; Bscl2; Berardinelli-Seip congenital lipodystrophy 2 (seipin); Berardinelli-Seip congenital lipodystrophy 2 (seipin); seipin; Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin); Bernardinelli-Seip congenital lipodystrophy 2 homolog; G protein gamma 3 linked; bernardinelli-Seip congenital lipodystrophy type 2 protein homolog; 先天性脂肪代谢障碍蛋白2(常染色体显性遗传痉挛性截瘫17); 背景信息:
Defects in BSCL2 are the cause of congenital generalized lipodystrophy type 2 (CGL2) . Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by a near absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
Defects in BSCL2 are the cause of spastic paraplegia type 17 (SPG17) ; also known as Silver spastic paraplegia syndrome. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs, and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. Defects in BSCL2 are a cause of distal hereditary motor neuropathy type 5 (HMN5); also known aS distal hereditary motor neuropathy type V (DSMAV). HMN5 is an autosomal dominant disorder characterized by degeneration of motor nerve fibers, predominantly in limb distal regions. 标签:His-tag |
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