人 CDK5RAP2 抗体对
01AB02566
CDK5 regulatory subunit associated protein 2 (CDK5RAP2) is a large coiled-coil protein that localizes to the centrosome and Golgi apparatus, where it serves as a critical regulator of microtubule nucleation and spindle organization. It recruits the gamma-tubulin ring complex (gamma-TuRC) to centrosomes via its conserved gamma-TuNA/CM1 motif, facilitating centrosomal maturation and proper mitotic spindle orientation. CDK5RAP2 also maintains centriole engagement and contributes to spindle checkpoint activation by regulating the transcription of BUBR1 and MAD2. Clinically, biallelic loss-of-function mutations in CDK5RAP2 cause autosomal recessive primary microcephaly (MCPH3), a condition characterized by significantly reduced brain size and intellectual disability resulting from defective neural progenitor divisions.
| 规格 | 起售价 |
|---|---|
| 登录后可查看 | |
技术参数
- 靶点基因名
- CDK5RAP2
- 基因别名
- CEP215; KIAA1633
- 蛋白别名
- CDK5 regulatory subunit associated protein 2; CDK5RAP2
- UniProt
- Q96SN8
- 物种
- Human
产品详情
- 靶点名称
- CDK5RAP2
- 蛋白名称
- CDK5 regulatory subunit associated protein 2
- 蛋白别名
- CDK5 regulatory subunit-associated protein 2; CDK5 activator-binding protein C48; Centrosome-associated protein 215
- 靶点基因名
- CDK5RAP2
- 基因别名
- CEP215; KIAA1633
- UniProt
- Q96SN8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
CDK5 regulatory subunit associated protein 2 (CDK5RAP2) is a large coiled-coil protein that localizes to the centrosome and Golgi apparatus, where it serves as a critical regulator of microtubule nucleation and spindle organization. It recruits the gamma-tubulin ring complex (gamma-TuRC) to centrosomes via its conserved gamma-TuNA/CM1 motif, facilitating centrosomal maturation and proper mitotic spindle orientation. CDK5RAP2 also maintains centriole engagement and contributes to spindle checkpoint activation by regulating the transcription of BUBR1 and MAD2. Clinically, biallelic loss-of-function mutations in CDK5RAP2 cause autosomal recessive primary microcephaly (MCPH3), a condition characterized by significantly reduced brain size and intellectual disability resulting from defective neural progenitor divisions.