抗人 Growth Hormone 1 抗体对
01AB02824
The GH1 gene provides instructions for making the growth hormone protein, which is essential for normal growth and development. Growth hormone is produced in the pituitary gland and stimulates the production of insulin-like growth factor-1 (IGF-1), which promotes cell growth and maturation in various tissues, including bone. Mutations in the GH1 gene can cause isolated growth hormone deficiency (IGHD), a condition characterized by slow growth and short stature. IGHD type IA is caused by complete loss of growth hormone production due to large deletions in the GH1 gene, resulting in severe growth failure by 6 months of age. IGHD type IB allows for some growth hormone production but is still associated with short stature. IGHD type II is caused by mutations in intron 3 of the GH1 gene, leading to the production of a shorter, non-functional form of growth hormone that interferes with the normal hormone's activity.
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技术参数
- 靶点基因名
- GH1
- 蛋白别名
- growth hormone 1; Growth Hormone 1
- UniProt
- P01241
- 物种
- Human
产品详情
- 靶点名称
- Growth Hormone 1
- 蛋白名称
- growth hormone 1
- 蛋白别名
- Somatotropin; Growth hormone; GH; GH-N; Growth hormone 1; Pituitary growth hormone
- 靶点基因名
- GH1
- UniProt
- P01241
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
The GH1 gene provides instructions for making the growth hormone protein, which is essential for normal growth and development. Growth hormone is produced in the pituitary gland and stimulates the production of insulin-like growth factor-1 (IGF-1), which promotes cell growth and maturation in various tissues, including bone. Mutations in the GH1 gene can cause isolated growth hormone deficiency (IGHD), a condition characterized by slow growth and short stature. IGHD type IA is caused by complete loss of growth hormone production due to large deletions in the GH1 gene, resulting in severe growth failure by 6 months of age. IGHD type IB allows for some growth hormone production but is still associated with short stature. IGHD type II is caused by mutations in intron 3 of the GH1 gene, leading to the production of a shorter, non-functional form of growth hormone that interferes with the normal hormone's activity.