靶标:
SERPINI1
产品别名:
HNS-S1; HNS-S2; PI12; neuroserpin; SERPINI1; serpin family I member 1; serpin family I member 1; neuroserpin; PI-12; peptidase inhibitor 12; serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1; serpin I1; serpin peptidase inhibitor clade I member 1; serpin peptidase inhibitor, clade I (neuroserpin), member 1; 丝氨酸或半胱氨酸蛋白水解酶抑制蛋白1; 神经源性丝氨酸蛋白酶抑制剂(NSP);
背景信息:
This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008],