抗人 ACY1 抗体对
01AB00637
Aminoacylase 1 (ACY1) is a crucial cytosolic enzyme that catalyzes the hydrolysis of N-acylated L-amino acids into free L-amino acids and acyl groups, playing a significant role in amino acid metabolism and recycling. This homodimeric, zinc-binding enzyme is predominantly expressed in various tissues, including the kidneys and brain, and is essential for the catabolism of acylated amino acids, which are vital for protein synthesis and cellular function. Mutations in the ACY1 gene can lead to aminoacylase 1 deficiency (ACY1D), an extremely rare autosomal recessive metabolic disorder characterized by neurological impairments such as developmental delays, intellectual disability, and increased urinary excretion of N-acetylated amino acids. Overall, ACY1 is integral to maintaining amino acid homeostasis and its dysfunction has significant implications for neurological health.
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技术参数
- 靶点基因名
- ACY1
- 蛋白别名
- aminoacylase 1; ACY1
- UniProt
- Q03154
- 物种
- Human
产品详情
- 靶点名称
- ACY1
- 蛋白名称
- aminoacylase 1
- 蛋白别名
- Aminoacylase-1; ACY-1; N-acyl-L-amino-acid amidohydrolase
- 靶点基因名
- ACY1
- UniProt
- Q03154
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Aminoacylase 1 (ACY1) is a crucial cytosolic enzyme that catalyzes the hydrolysis of N-acylated L-amino acids into free L-amino acids and acyl groups, playing a significant role in amino acid metabolism and recycling. This homodimeric, zinc-binding enzyme is predominantly expressed in various tissues, including the kidneys and brain, and is essential for the catabolism of acylated amino acids, which are vital for protein synthesis and cellular function. Mutations in the ACY1 gene can lead to aminoacylase 1 deficiency (ACY1D), an extremely rare autosomal recessive metabolic disorder characterized by neurological impairments such as developmental delays, intellectual disability, and increased urinary excretion of N-acetylated amino acids. Overall, ACY1 is integral to maintaining amino acid homeostasis and its dysfunction has significant implications for neurological health.