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The growth hormone 1 (GH1) gene encodes human pituitary-derived growth hormone, also called somatotropin. This peptide consists of 191 amino acids and plays an essential role in regulating postnatal body/tissue/bone/muscle development by stimulating cell proliferation, differentiation, and metabolic processes. The GH1 locus resides on chromosome 17q22-q24 within a cluster containing several related genes arising from duplication events; alternative splicing generates multiple isoforms. Mutations/deletions can result in isolated or combined pituitary hormonal deficiencies manifesting as short stature or other endocrine abnormalities. While drugs do not act on this gene directly, recombinant forms of its protein product are widely used therapeutically for various forms of hypopituitarism/growth failure.
Replacement therapy with recombinant hGH acts by binding to the growth hormone receptor, stimulating downstream signaling pathways that promote tissue/linear bone/muscle/fat metabolism changes similar to endogenous GH action.
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