抗人 KATNIP 抗体对
01AB02424
Katanin interacting protein (KATNIP) is a conserved cytosolic scaffold protein that localizes to the basal body of primary cilia. It interacts with the microtubule-severing katanin complex to modulate microtubule dynamics and trafficking. KATNIP also binds the ciliary kinase CILK1, increasing its stability and activity, which in turn regulates primary cilium length and signaling. These functions are critical for proper ciliary structure and cellular communication. Biallelic loss-of-function variants in the KATNIP gene are linked to human ciliopathies, specifically Joubert and Joubert-like syndromes. These conditions are characterized by cerebellar vermis hypoplasia, developmental delay, and oculomotor apraxia. Disruption of KATNIP-mediated microtubule and lysosomal functions contributes to the neurodevelopmental phenotypes observed in these disorders.
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技术参数
- 靶点基因名
- KATNIP
- 基因别名
- KIAA0556
- 蛋白别名
- katanin interacting protein; KATNIP
- UniProt
- O60303
- 物种
- Human
产品详情
- 靶点名称
- KATNIP
- 蛋白名称
- katanin interacting protein
- 蛋白别名
- Katanin-interacting protein
- 靶点基因名
- KATNIP
- 基因别名
- KIAA0556
- UniProt
- O60303
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Katanin interacting protein (KATNIP) is a conserved cytosolic scaffold protein that localizes to the basal body of primary cilia. It interacts with the microtubule-severing katanin complex to modulate microtubule dynamics and trafficking. KATNIP also binds the ciliary kinase CILK1, increasing its stability and activity, which in turn regulates primary cilium length and signaling. These functions are critical for proper ciliary structure and cellular communication. Biallelic loss-of-function variants in the KATNIP gene are linked to human ciliopathies, specifically Joubert and Joubert-like syndromes. These conditions are characterized by cerebellar vermis hypoplasia, developmental delay, and oculomotor apraxia. Disruption of KATNIP-mediated microtubule and lysosomal functions contributes to the neurodevelopmental phenotypes observed in these disorders.