Growth hormone receptor

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Growth hormone receptor
PDB rendering based on 1a22.
Available structures: 1a22, 1axi, 1hwg, 1hwh, 1kf9, 2aew, 3hhr
Identifiers
Symbol(s)	GHR; GHBP
External IDs	OMIM: 600946 MGI: 95708 HomoloGene: 134
Gene ontology Molecular Function: • receptor activity • growth hormone receptor activity • protein binding Cellular Component: • integral to plasma membrane • membrane • extrinsic to membrane Biological Process: • skeletal development • endocytosis • growth
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	2690	14600
Ensembl	ENSG00000112964	ENSMUSG00000055737
Uniprot	P10912	Q3UNY8
Refseq	NM_000163 (mRNA) NP_000154 (protein)	NM_001048147 (mRNA) NP_001041612 (protein)
Location	Chr 5: 42.46 - 42.76 Mb	Chr 15: 3.27 - 3.53 Mb
Pubmed search	[1]	[2]

Growth hormone receptor, also known as GHR, is a human gene.

This gene encodes a protein that 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. A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. 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 (proportional dwarfism). Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized.^[1] Laron mice (that is mice genetically engeneered to not carry defective Ghr), have a dramatic reduction in body mass (only reaching 50% of the weight of normal siblings), and also show a ~40% increase in lifespan.

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[edit] External links

• MeSH Somatotropin+receptors
• Illustration at nih.gov
• Overview

v • d • e Neuropeptide receptors Hypothalamic hormone receptors CRH - FSH - LHRH - TRH - Somatostatin Pituitary hormone receptors Vasopressin (1A, 1B, 2) - Oxytocin - LHCG - Type I cytokine receptor (GH, Prolactin) - TSH Other hormone receptors Atrial natriuretic factor - Calcitonin - Cholecystokinin (A, B) - VIP Opioid receptors Delta - Kappa - Mu - Sigma (1, 2) - Nociceptin Other neuropeptide receptors Angiotensin - Bradykinin (B1, B2) / Tachykinin (TACR1) - Calcitonin gene-related peptide - Galanin - GPCR neuropeptide (B/W, FF, S, Y) - Neurotensin