Mouse anti-Human sapiens (Human) GH1 Monoclonal Antibody

Function

Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues

Subcellular Location

Secreted

Disease Association

Growth hormone deficiency, isolated, 1A (IGHD1A) : An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone. [The disease is caused by variants affecting the gene represented in this entry] | Growth hormone deficiency, isolated, 1B (IGHD1B) : 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. [The disease is caused by variants affecting the gene represented in this entry] | Kowarski syndrome (KWKS) : 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. [The disease is caused by variants affecting the gene represented in this entry] | Growth hormone deficiency, isolated, 2 (IGHD2) : 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. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Monomer, dimer, trimer, tetramer and pentamer, disulfide-linked or non-covalently associated, in homomeric and heteromeric combinations. Can also form a complex either with GHBP or with the alpha2-macroglobulin complex

• Roskam W. et al. Molecular cloning and nucleotide sequence of the human growth hormone structural gene. — Nucleic Acids Res. (1979)
• Martial J.A. et al. Human growth hormone: complementary DNA cloning and expression in bacteria. — Science (1979)
• Denoto F.M. et al. Human growth hormone DNA sequence and mRNA structure: possible alternative splicing. — Nucleic Acids Res. (1981)
• Seeburg P.H. et al. The human growth hormone gene family: nucleotide sequences show recent divergence and predict a new polypeptide hormone. — DNA (1982)
• Chen E.Y. et al. The human growth hormone locus: nucleotide sequence, biology, and evolution. — Genomics (1989)
• Gu J. et al. A novel gene expressed in human pituitary. (SEP-)
• Sedman L. et al. Complex signatures of locus-specific selective pressures and gene conversion on human growth hormone/chorionic somatomammotropin genes. — Hum. Mutat. (2008)
• Zody M.C. et al. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. — Nature (2006)