人 PREPL 抗体对
01AB02258
Prolyl endopeptidase like (PREPL) is a serine peptidase encoded by the PREPL gene located at chromosome 2p21, belonging to the prolyl oligopeptidase family with structural homology to prolyl endopeptidase (PREP) including a catalytic domain and β-propeller regulatory domain. PREPL is ubiquitously expressed with highest levels in brain, kidney, and skeletal muscle, and regulates trans-Golgi network morphology through AP-1 complex membrane binding while potentially modulating synaptic vesicle exocytosis. Despite its structural similarity to PREP, PREPL exhibits negligible hydrolytic activity and does not cleave peptides after basic residues, with its precise substrate specificity remaining unclear. PREPL deficiency is a rare autosomal recessive disorder characterized by neonatal hypotonia, feeding difficulties, growth hormone deficiency, and early growth impairment, historically described as hypotonia-cystinuria syndrome when involving contiguous gene deletions with SLC3A1.
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技术参数
- 靶点基因名
- PREPL
- 基因别名
- KIAA0436
- 蛋白别名
- prolyl endopeptidase like; PREPL
- UniProt
- Q4J6C6
- 物种
- Human
产品详情
- 靶点名称
- PREPL
- 蛋白名称
- prolyl endopeptidase like
- 蛋白别名
- Prolyl endopeptidase-like; Prolylendopeptidase-like
- 靶点基因名
- PREPL
- 基因别名
- KIAA0436
- UniProt
- Q4J6C6
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Prolyl endopeptidase like (PREPL) is a serine peptidase encoded by the PREPL gene located at chromosome 2p21, belonging to the prolyl oligopeptidase family with structural homology to prolyl endopeptidase (PREP) including a catalytic domain and β-propeller regulatory domain. PREPL is ubiquitously expressed with highest levels in brain, kidney, and skeletal muscle, and regulates trans-Golgi network morphology through AP-1 complex membrane binding while potentially modulating synaptic vesicle exocytosis. Despite its structural similarity to PREP, PREPL exhibits negligible hydrolytic activity and does not cleave peptides after basic residues, with its precise substrate specificity remaining unclear. PREPL deficiency is a rare autosomal recessive disorder characterized by neonatal hypotonia, feeding difficulties, growth hormone deficiency, and early growth impairment, historically described as hypotonia-cystinuria syndrome when involving contiguous gene deletions with SLC3A1.