人 KLHL41 抗体对
01AB02612
Kelch like family member 41 (KLHL41) is a muscle-specific protein essential for skeletal muscle development and sarcomere integrity. It contains BTB, BACK, and Kelch domains, functioning as a substrate adaptor in cullin 3-based ubiquitin ligase complexes. Unlike many adaptors, KLHL41 primarily acts in a nonproteolytic manner to stabilize the giant sarcomeric protein nebulin, preventing its aggregation and degradation. It promotes myofibril assembly by facilitating the lateral fusion of thin filaments and regulates myoblast proliferation. Clinically, biallelic loss-of-function mutations in KLHL41 cause autosomal recessive nemaline myopathy 9, a severe congenital disorder characterized by muscle weakness, respiratory insufficiency, and the presence of nemaline bodies due to disrupted sarcomeric architecture.
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技术参数
- 靶点基因名
- KLHL41
- 基因别名
- KBTBD10; KRP1
- 蛋白别名
- kelch like family member 41; KLHL41
- UniProt
- O60662
- 物种
- Human
产品详情
- 靶点名称
- KLHL41
- 蛋白名称
- kelch like family member 41
- 蛋白别名
- Kelch-like protein 41; Kel-like protein 23; Kelch repeat and BTB domain-containing protein 10; Kelch-related protein 1; Sarcosin
- 靶点基因名
- KLHL41
- 基因别名
- KBTBD10; KRP1
- UniProt
- O60662
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Kelch like family member 41 (KLHL41) is a muscle-specific protein essential for skeletal muscle development and sarcomere integrity. It contains BTB, BACK, and Kelch domains, functioning as a substrate adaptor in cullin 3-based ubiquitin ligase complexes. Unlike many adaptors, KLHL41 primarily acts in a nonproteolytic manner to stabilize the giant sarcomeric protein nebulin, preventing its aggregation and degradation. It promotes myofibril assembly by facilitating the lateral fusion of thin filaments and regulates myoblast proliferation. Clinically, biallelic loss-of-function mutations in KLHL41 cause autosomal recessive nemaline myopathy 9, a severe congenital disorder characterized by muscle weakness, respiratory insufficiency, and the presence of nemaline bodies due to disrupted sarcomeric architecture.