人 SMPX 抗体对
01AB02299
Small muscle protein X-linked (SMPX) is a small, cytoplasmic protein predominantly expressed in skeletal and cardiac muscle, where it is involved in the regulatory network that coordinates muscle cell structure and function during growth, adaptation, and repair. SMPX is stretch-responsive and regulated by muscle-specific transcription factors such as MEF2 and MyoD, and its expression is upregulated during muscle differentiation and adaptation; overexpression in myogenic cells affects cytoskeletal dynamics, cell shape, and promotes myocyte fusion, suggesting a role in muscle remodeling and signaling. Despite its high expression in muscle, SMPX knockout mice do not display overt muscle or cardiac phenotypes, indicating possible functional redundancy. Pathologically, mutations in SMPX are associated with X-linked nonsyndromic hearing loss (DFNX4), likely due to its expression in the inner ear and involvement in cochlear development, and more recently, missense mutations have been linked to adult-onset distal myopathy characterized by slowly progressive limb muscle weakness and myopathic changes with protein aggregation.
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技术参数
- 靶点基因名
- SMPX
- 基因别名
- SRMX
- 蛋白别名
- small muscle protein X-linked; SMPX
- UniProt
- Q9UHP9
- 物种
- Human
产品详情
- 靶点名称
- SMPX
- 蛋白名称
- small muscle protein X-linked
- 蛋白别名
- Small muscular protein; Stretch-responsive skeletal muscle protein
- 靶点基因名
- SMPX
- 基因别名
- SRMX
- UniProt
- Q9UHP9
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Small muscle protein X-linked (SMPX) is a small, cytoplasmic protein predominantly expressed in skeletal and cardiac muscle, where it is involved in the regulatory network that coordinates muscle cell structure and function during growth, adaptation, and repair. SMPX is stretch-responsive and regulated by muscle-specific transcription factors such as MEF2 and MyoD, and its expression is upregulated during muscle differentiation and adaptation; overexpression in myogenic cells affects cytoskeletal dynamics, cell shape, and promotes myocyte fusion, suggesting a role in muscle remodeling and signaling. Despite its high expression in muscle, SMPX knockout mice do not display overt muscle or cardiac phenotypes, indicating possible functional redundancy. Pathologically, mutations in SMPX are associated with X-linked nonsyndromic hearing loss (DFNX4), likely due to its expression in the inner ear and involvement in cochlear development, and more recently, missense mutations have been linked to adult-onset distal myopathy characterized by slowly progressive limb muscle weakness and myopathic changes with protein aggregation.