Growth hormone 1The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional before and after tretinoin an arrangement which is thought to have evolved by a gtowth of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of human growth hormone gene five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in human growth hormone gene growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Peptide hormone metabolism. Gene Ontology GO annotations related to this gene include human growth hormone gene factor activity and growth hormone receptor binding.
GH1 growth hormone 1 [Homo sapiens (human)] - Gene - NCBI
The GH1 gene provides instructions for making the growth hormone protein. Growth hormone is produced in the growth-stimulating somatotropic cells of the pituitary gland, which is located at the base of the brain.
Growth hormone is necessary for the normal growth of the body's bones and tissues. The production of growth hormone is triggered when two other hormones are turned on activated: Ghrelin and growth hormone releasing hormone also stimulate the release of growth hormone from the pituitary gland.
The release of growth hormone into the body peaks during puberty and reaches a low point at about age Cells in the liver respond to growth hormone and trigger the production of a protein called insulin-like growth factor-I IGF-I.
This protein stimulates cell growth and cell maturation differentiation in many different tissues, including bone. The production of IGF-I by the actions of growth hormone is a major contributor to the promotion of growth. Growth hormone also plays a role in many chemical reactions metabolic processes in the body. By acting on specific tissues, growth hormone is involved in protein production and the breakdown metabolism of fats and carbohydrates. More than 70 mutations in the GH1 gene have been found to cause isolated growth hormone deficiency, a condition characterized by slow growth and short stature.
Mutations that prevent the production of growth hormone, such as a deletion of a large section of the gene, result in isolated growth hormone deficiency type IA and severe growth failure by age 6 months. GH1 gene mutations that cause type IB are found throughout the gene and allow some growth hormone to be produced. Most GH1 gene mutations that cause isolated growth hormone deficiency type II occur in a part of the gene called intron 3.
These mutations result in the production of growth hormone that is shorter than normal. This short version of growth hormone is not released from cells and is not available to work in the body.
In addition, this shorter growth hormone interferes with the function of normal growth hormone, so there is very little functional growth hormone available for use. A decrease in usable growth hormone results in the signs and symptoms of isolated growth hormone deficiency type II. Genetic causes and treatment of isolated growth hormone deficiency-an update. J Clin Endocrinol Metab. Epub Jun A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.
Epub Oct Genetics of isolated growth hormone deficiency. J Clin Res Pediatr Endocrinol. Epub May 1.