人 KLHL31 抗体对
01AB02846
Kelch like family member 31 (KLHL31) is a muscle-specific protein that functions as a substrate-specific adaptor for the ubiquitination and degradation of key sarcomeric proteins, such as Filamin-C (FlnC). By regulating the turnover of these structural components, KLHL31 maintains sarcomere organization and sarcoplasmic reticulum coupling. It is expressed under the control of MEF2 transcription factors and also acts as a transcriptional repressor within the MAPK/JNK signaling pathway, inhibiting the activity of serum response elements. Clinically, the importance of KLHL31 is demonstrated by its link to congenital myopathy. Deficiency of the protein leads to stunted skeletal muscle growth, centronuclear myopathy, and structural defects such as Z-disc streaming and central cores, largely due to the pathological accumulation of FlnC.
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技术参数
- 靶点基因名
- KLHL31
- 基因别名
- BKLHD6; KBTBD1; KLHL
- 蛋白别名
- kelch like family member 31; KLHL31
- UniProt
- Q9H511
- 物种
- Human
产品详情
- 靶点名称
- KLHL31
- 蛋白名称
- kelch like family member 31
- 蛋白别名
- Kelch-like protein 31; BTB and kelch domain-containing protein 6; Kelch repeat and BTB domain-containing protein 1; Kelch-like protein KLHL
- 靶点基因名
- KLHL31
- 基因别名
- BKLHD6; KBTBD1; KLHL
- UniProt
- Q9H511
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Kelch like family member 31 (KLHL31) is a muscle-specific protein that functions as a substrate-specific adaptor for the ubiquitination and degradation of key sarcomeric proteins, such as Filamin-C (FlnC). By regulating the turnover of these structural components, KLHL31 maintains sarcomere organization and sarcoplasmic reticulum coupling. It is expressed under the control of MEF2 transcription factors and also acts as a transcriptional repressor within the MAPK/JNK signaling pathway, inhibiting the activity of serum response elements. Clinically, the importance of KLHL31 is demonstrated by its link to congenital myopathy. Deficiency of the protein leads to stunted skeletal muscle growth, centronuclear myopathy, and structural defects such as Z-disc streaming and central cores, largely due to the pathological accumulation of FlnC.