人 MRAP 抗体对
01AB02506
Melanocortin 2 receptor accessory protein (MRAP) is a small, single-pass transmembrane protein that forms antiparallel homodimers with unique dual topology. It is essential for the trafficking and functional maturation of the melanocortin 2 receptor (MC2R), also known as the ACTH receptor. MRAP facilitates the exit of MC2R from the endoplasmic reticulum, ensures its correct glycosylation, and enables its signaling at the plasma membrane. While primarily required for MC2R, MRAP also modulates the ligand sensitivity of other melanocortin receptors (MC1R, MC3R, MC4R, and MC5R). Clinically, biallelic loss-of-function mutations in MRAP lead to familial glucocorticoid deficiency type 2. This condition is characterized by severe cortisol deficiency and ACTH resistance, often presenting in infancy with life-threatening hypoglycemia and adrenal crises.
| 规格 | 起售价 |
|---|---|
| 登录后可查看 | |
技术参数
- 靶点基因名
- MRAP
- 基因别名
- C21orf61; FALP
- 蛋白别名
- melanocortin 2 receptor accessory protein; MRAP
- UniProt
- Q8TCY5
- 物种
- Human
产品详情
- 靶点名称
- MRAP
- 蛋白名称
- melanocortin 2 receptor accessory protein
- 蛋白别名
- Melanocortin-2 receptor accessory protein; B27; Fat cell-specific low molecular weight protein; Fat tissue-specific low MW protein
- 靶点基因名
- MRAP
- 基因别名
- C21orf61; FALP
- UniProt
- Q8TCY5
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Melanocortin 2 receptor accessory protein (MRAP) is a small, single-pass transmembrane protein that forms antiparallel homodimers with unique dual topology. It is essential for the trafficking and functional maturation of the melanocortin 2 receptor (MC2R), also known as the ACTH receptor. MRAP facilitates the exit of MC2R from the endoplasmic reticulum, ensures its correct glycosylation, and enables its signaling at the plasma membrane. While primarily required for MC2R, MRAP also modulates the ligand sensitivity of other melanocortin receptors (MC1R, MC3R, MC4R, and MC5R). Clinically, biallelic loss-of-function mutations in MRAP lead to familial glucocorticoid deficiency type 2. This condition is characterized by severe cortisol deficiency and ACTH resistance, often presenting in infancy with life-threatening hypoglycemia and adrenal crises.