Growth Hormone ist ein Gen, das durch das Symbol GH1 kodiert wird. Im Allgemeinen auch bezeichnet als: Somatotropin; GH 1; Pituitary GH1. Growth Hormone hat eine Masse von 24.85kDa, eine Aminosäurelänge von 217, und ist an folgenden Krankheiten beteiligt: Growth hormone deficiency, isolated, 1A; Growth hormone deficiency, isolated, 1B; Kowarski syndrome; Growth hormone deficiency, isolated, 2.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.
Entrez Zusammenfassung
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The 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 orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the 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 the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature.
Rolle bei Krankheiten
Growth hormone deficiency, isolated, 1A: An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone.
Growth hormone deficiency, isolated, 1B: An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy.
Kowarski syndrome: A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy.
Growth hormone deficiency, isolated, 2: An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy.
Sequenzähnlichkeiten
Belongs to the somatotropin/prolactin family.
