抗人 KIF21A 抗体对
01AB01976
Kinesin family member 21A (KIF21A) is a plus end–directed, processive motor protein that regulates axon guidance and cortical microtubule dynamics by binding microtubules and hydrolyzing ATP. Highly expressed in neurons, it interacts with KANK1/2 to inhibit microtubule growth at the cell cortex, thereby shaping axon extension and pathfinding. The protein's activity is tightly controlled by an intramolecular autoinhibition mechanism. Pathogenic heterozygous missense mutations in KIF21A, which typically disrupt this autoinhibition and lead to constitutive motor activity, are the primary cause of autosomal dominant congenital fibrosis of the extraocular muscles type 1 (CFEOM1). This condition is characterized by restrictive ophthalmoplegia and ptosis resulting from abnormal cranial motor axon development.
| 规格 | 起售价 |
|---|---|
| 登录后可查看 | |
技术参数
- 靶点基因名
- KIF21A
- 基因别名
- KIAA1708; KIF2
- 蛋白别名
- kinesin family member 21A; KIF21A
- UniProt
- Q7Z4S6
- 物种
- Human
产品详情
- 靶点名称
- KIF21A
- 蛋白名称
- kinesin family member 21A
- 蛋白别名
- Kinesin-like protein KIF21A; Kinesin-like protein KIF2; Renal carcinoma antigen NY-REN-62
- 靶点基因名
- KIF21A
- 基因别名
- KIAA1708; KIF2
- UniProt
- Q7Z4S6
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Kinesin family member 21A (KIF21A) is a plus end–directed, processive motor protein that regulates axon guidance and cortical microtubule dynamics by binding microtubules and hydrolyzing ATP. Highly expressed in neurons, it interacts with KANK1/2 to inhibit microtubule growth at the cell cortex, thereby shaping axon extension and pathfinding. The protein's activity is tightly controlled by an intramolecular autoinhibition mechanism. Pathogenic heterozygous missense mutations in KIF21A, which typically disrupt this autoinhibition and lead to constitutive motor activity, are the primary cause of autosomal dominant congenital fibrosis of the extraocular muscles type 1 (CFEOM1). This condition is characterized by restrictive ophthalmoplegia and ptosis resulting from abnormal cranial motor axon development.