NP_001229335.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
growth hormone receptor isoform 1
NCBI Official Synonym Full Names
growth hormone receptor
NCBI Official Synonym Symbols
NCBI Protein Information
growth hormone receptor
UniProt Protein Name
Growth hormone receptor
UniProt Synonym Protein Names
Somatotropin receptor
UniProt Synonym Gene Names
NCBI Summary for GHR
This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
UniProt Comments for GHR
GH receptor: Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway. Defects in GHR are a cause of Laron syndrome (LARS). A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone. Defects in GHR may be a cause of idiopathic short stature autosomal (ISSA). Short stature is defined by a subnormal rate of growth. Belongs to the type I cytokine receptor family. Type 1 subfamily. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Receptor, cytokine
Chromosomal Location of Human Ortholog: 5p13.1-p12
Cellular Component: cell surface; extracellular region; extracellular space; integral to membrane; integral to plasma membrane; plasma membrane; receptor complex
Molecular Function: peptide hormone binding; protein binding; protein homodimerization activity; protein kinase binding
Biological Process: 2-oxoglutarate metabolic process; activation of MAPK activity; allantoin metabolic process; cellular response to hormone stimulus; citrate metabolic process; creatine metabolic process; creatinine metabolic process; fatty acid metabolic process; insulin-like growth factor receptor signaling pathway; isoleucine metabolic process; JAK-STAT cascade; multicellular organismal metabolic process; oxaloacetate metabolic process; positive regulation of multicellular organism growth; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of tyrosine phosphorylation of Stat3 protein; positive regulation of tyrosine phosphorylation of Stat5 protein; regulation of multicellular organism growth; succinate metabolic process; taurine metabolic process; tyrosine phosphorylation of JAK2 protein; valine metabolic process
Disease: Hypercholesterolemia, Familial; Laron Syndrome
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Products associated with anti-GHR antibody
Pathways associated with anti-GHR antibody
Diseases associated with anti-GHR antibody
Organs/Tissues associated with anti-GHR antibody
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