抗人 ADSS1 抗体对
01AB02379
Adenylosuccinate synthase 1 (ADSS1) is a muscle-enriched cytosolic enzyme that catalyzes the first committed step in the biosynthesis of adenosine monophosphate (AMP) from inosine monophosphate (IMP). As a key component of the purine nucleotide cycle, ADSS1 converts IMP and aspartate into adenylosuccinate, thereby regulating adenine nucleotide pools and supporting energy metabolism in skeletal muscle. This process is vital for maintaining cellular energy balance during periods of high demand. Pathogenic biallelic mutations in the ADSS1 gene cause autosomal recessive adolescent-onset distal myopathy (Myopathy, Distal, 5), characterized by progressive muscle weakness and atrophy, typically beginning in the lower extremities. Additionally, severe loss of ADSS1 function is linked to fetal akinesia deformation sequence, highlighting its essential role in neuromuscular development and function.
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技术参数
- 靶点基因名
- ADSS1
- 基因别名
- ADSSL1
- 蛋白别名
- adenylosuccinate synthase 1; ADSS1
- UniProt
- Q8N142
- 物种
- Human
产品详情
- 靶点名称
- ADSS1
- 蛋白名称
- adenylosuccinate synthase 1
- 蛋白别名
- Adenylosuccinate synthetase isozyme 1; AMPSase 1; AdSS 1; Adenylosuccinate synthetase; basic isozyme; Adenylosuccinate synthetase; muscle isozyme; M-type adenylosuccinate synthetase; Adenylosuccinate synthetase-like 1; AdSSL1; IMP--aspartate ligase 1
- 靶点基因名
- ADSS1
- 基因别名
- ADSSL1
- UniProt
- Q8N142
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Adenylosuccinate synthase 1 (ADSS1) is a muscle-enriched cytosolic enzyme that catalyzes the first committed step in the biosynthesis of adenosine monophosphate (AMP) from inosine monophosphate (IMP). As a key component of the purine nucleotide cycle, ADSS1 converts IMP and aspartate into adenylosuccinate, thereby regulating adenine nucleotide pools and supporting energy metabolism in skeletal muscle. This process is vital for maintaining cellular energy balance during periods of high demand. Pathogenic biallelic mutations in the ADSS1 gene cause autosomal recessive adolescent-onset distal myopathy (Myopathy, Distal, 5), characterized by progressive muscle weakness and atrophy, typically beginning in the lower extremities. Additionally, severe loss of ADSS1 function is linked to fetal akinesia deformation sequence, highlighting its essential role in neuromuscular development and function.