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GH1
growth hormone 1
The GH1 gene encodes growth hormone, a crucial protein produced in the pituitary gland that is essential for normal growth, tissue development, and metabolic regulation. The GH1 gene provides the genetic blueprint for human growth hormone, a key hormone for healthy development.
GH1 is located on the long (q) arm of chromosome 17, at band 17q23.3. Arm ratio per GRCh38 - banding schematic.
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Clinical tests that include this
Overview
The GH1 gene, also known as growth hormone 1, is fundamental for producing growth hormone, a protein primarily synthesised in the pituitary gland. This hormone is indispensable for promoting typical bodily growth and development, particularly affecting bones and tissues. Its production is tightly regulated, influenced by other hormones and peaking during puberty.
Beyond its role in physical growth, growth hormone also participates in a range of metabolic activities, including protein synthesis and the breakdown of fats and carbohydrates. Disruptions to the GH1 gene or its protein product can lead to various growth-related conditions.
What the gene does
The GH1 gene provides instructions for synthesising growth hormone, a polypeptide hormone crucial for somatic growth. This hormone is primarily produced by somatotropic cells within the anterior pituitary gland. Its release is stimulated by ghrelin from the stomach and growth hormone releasing hormone from the hypothalamus, both of which activate the pituitary to secrete growth hormone.
Once released, growth hormone acts on various target tissues, notably the liver, where it triggers the production of insulin-like growth factor-I (IGF-I). IGF-I is a potent mediator of growth, stimulating cell proliferation and differentiation in many tissues, including bone. Growth hormone also has direct metabolic effects, influencing protein anabolism and the catabolism of lipids and carbohydrates, thereby playing a broad role in energy regulation.
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Chromosome location
The GH1 gene is located on chromosome 17, specifically at band 17q23.3. This region of the human genome contains several genes that are closely related in sequence and function, forming a cluster of growth hormone and chorionic somatomammotropin genes.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Variants within the GH1 gene can alter the production or function of growth hormone, leading to a spectrum of health outcomes. These genetic changes can range from small alterations to larger deletions affecting significant portions of the gene. The clinical impact of a GH1 variant depends on its specific nature and how it influences the final growth hormone protein.
Sample of pathogenic variants
4 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
g.(?_61994669)_(61996136_?)del | - | Pathogenic | ★☆☆☆ | not provided |
g.(?_61994669)_(61996359_?)del | - | Pathogenic | ★☆☆☆ | not provided |
g.(63914995_63921260)del | - | Pathogenic | ★☆☆☆ | Ateleiotic dwarfism |
GH1, 6.7-KB DEL | - | Pathogenic | - | Ateleiotic dwarfism |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variants in the GH1 gene are primarily associated with isolated growth hormone deficiency. This condition is characterised by insufficient production of growth hormone, leading to slow growth and short stature. Different types of GH1 variants can result in varying degrees of severity for this condition, from mild to severe growth impairment.
UK clinical status
The GH1 gene is included in several UK NHS national genomic testing panels, reflecting its clinical significance. It is part of the 'IUGR and IGF abnormalities', 'Monogenic short stature' (R453), and 'Pituitary hormone deficiency' (R159) green-rated panels, indicating its recognised role in these conditions.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the primary function of the GH1 gene?
The GH1 gene provides instructions for making growth hormone, a protein essential for normal body growth, tissue development, and various metabolic processes such as protein synthesis and the breakdown of fats and carbohydrates.
What condition is most commonly associated with variants in the GH1 gene?
Variants in the GH1 gene are most commonly associated with isolated growth hormone deficiency. This condition typically results in slow growth and short stature due to insufficient production of functional growth hormone.
How does growth hormone affect other parts of the body?
Growth hormone primarily acts on the liver, stimulating the production of insulin-like growth factor-I (IGF-I), which promotes cell growth and maturation in tissues like bone. It also directly influences metabolic processes across the body, affecting how proteins, fats, and carbohydrates are used.
References
- Alatzoglou KS, Dattani MT. Genetic causes and treatment of isolated growth hormone deficiency-an update. Nature reviews. Endocrinology. 2010. PMID: 20852587
- Mullis PE. Genetics of isolated growth hormone deficiency. Journal of clinical research in pediatric endocrinology. 2010. PMID: 21274339
- Alatzoglou KS, Turton JP, Kelberman D. Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. The Journal of clinical endocrinology and metabolism. 2009. PMID: 19567534
- Hamid R, Phillips JA 3rd, Holladay C. A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. The Journal of clinical endocrinology and metabolism. 2009. PMID: 19837935
- Mullis PE. Genetic control of growth. European journal of endocrinology. 2005. PMID: 15762183