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LHCGR
luteinizing hormone/choriogonadotropin receptor
The *LHCGR* gene encodes a receptor protein vital for reproductive function, responding to luteinizing hormone and chorionic gonadotropin. The *LHCGR* gene provides instructions for creating the luteinizing hormone/choriogonadotropin receptor.
LHCGR is located on the short (p) arm of chromosome 2, at band 2p16.3. Arm ratio per GRCh38 - banding schematic.
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Overview
The *LHCGR* gene provides the genetic blueprint for the luteinizing hormone/choriogonadotropin receptor. This receptor acts as a cellular communication point, binding to two important hormones: luteinizing hormone (LH) and chorionic gonadotropin (CG). These hormones and their receptor are fundamental to various reproductive processes, including sexual development and fertility, making the *LHCGR* gene a central component of the endocrine system's influence on reproduction.
What the gene does
The protein produced from the *LHCGR* gene functions as a receptor, enabling cells to respond to luteinizing hormone and chorionic gonadotropin. In males, chorionic gonadotropin stimulates the development of Leydig cells in the testes, while luteinizing hormone prompts these cells to produce androgens, including testosterone, which are essential for male sexual development and reproduction. In females, luteinizing hormone triggers ovulation, the release of egg cells from the ovaries. Chorionic gonadotropin, produced during pregnancy, helps maintain the necessary conditions for a successful pregnancy. This receptor's ability to bind these specific ligands allows for appropriate physiological responses in the body.
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Chromosome location
The *LHCGR* gene is situated on chromosome 2, specifically at position 2p16.3. This chromosomal location indicates its precise address within the human genome.
Protein structure
The LHCGR protein consists of 699 amino acids. Its structure includes several key domains and repeats. The protein begins with an LRRNT domain located at amino acids 27-66. This is followed by a series of leucine-rich repeats (LRR), including LRR 1 (amino acids 96-115), LRR 2 (amino acids 124-145), LRR 3 (amino acids 149-171), LRR 4 (amino acids 175-196), and LRR 5 (amino acids 198-220), concluding with LRR 6 (amino acids 223-244).
Key variants
Variations within the *LHCGR* gene can alter the function of the luteinizing hormone/choriogonadotropin receptor. These genetic changes can lead to either reduced or overactive receptor signalling, impacting how the body responds to reproductive hormones. Such variants are associated with a spectrum of conditions affecting sexual development and fertility.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Genetic changes in the *LHCGR* gene are associated with a range of inherited conditions, predominantly impacting reproductive health. These include familial male-limited precocious puberty, where the receptor is constantly active, and Leydig cell hypoplasia, characterised by impaired receptor function. The *LHCGR* gene is also mentioned in the context of Polycystic ovary syndrome, though its role there is considered polygenic or complex.
UK clinical status
The *LHCGR* gene is part of the NHS Genomic Medicine Service's national test directory. It is included on the R146 panel for Differences in sex development, indicating its recognised clinical significance in the UK healthcare system.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the primary function of the LHCGR gene?
The *LHCGR* gene provides instructions for the luteinizing hormone/choriogonadotropin receptor, which binds to luteinizing hormone and chorionic gonadotropin to regulate reproductive processes in both males and females.
How do LHCGR gene variants affect reproductive health?
Variants in the *LHCGR* gene can lead to either overactivity or underactivity of the receptor, disrupting normal hormonal responses. This can result in conditions such as familial male-limited precocious puberty or Leydig cell hypoplasia, affecting sexual development and fertility.
Is the LHCGR gene involved in Polycystic ovary syndrome?
Yes, the *LHCGR* gene is mentioned in relation to Polycystic ovary syndrome, though its involvement is considered to be part of a polygenic or complex genetic contribution to the condition.
References
- Qiao J, Han B, Liu BL. A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. Human mutation. 2009. PMID: 19551906
- Kossack N, Simoni M, Richter-Unruh A. Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. PLoS medicine. 2008. PMID: 18433292
- Themmen AP, Verhoef-Post M. LH receptor defects. Seminars in reproductive medicine. 2002. PMID: 12428200
- Wu SM, Leschek EW, Rennert OM. Luteinizing hormone receptor mutations in disorders of sexual development and cancer. Frontiers in bioscience : a journal and virtual library. 2000. PMID: 10704433
- Wu SM, Chan WY. Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations. Archives of medical research. 1999. PMID: 10714363