| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Lutropin-choriogonadotropic hormone receptor
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| http://www.biopax.org/relea... |
LSHR_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
LH/CG-R,
LHR,
LSH-R,
Luteinizing hormone receptor
|
| http://www.biopax.org/relea... |
FUNCTION: Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=Long; IsoId=P22888-1; Sequence=Displayed; Name=Short; IsoId=P22888-2; Sequence=VSP_001962; TISSUE SPECIFICITY: Gonadal and thyroid cells. DISEASE: Defects in LHCGR are a cause of familial male precocious puberty (FMPP) [MIM:176410]; also known as testotoxicosis. In FMPP the receptor is constitutively activated. DISEASE: Defects in LHCGR are the cause of luteinizing hormone resistance (LHR) [MIM:238320]; also known as Leydig cell hypoplasia in males. LHR is an autosomal recessive disorder characterized by unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones, lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. SIMILARITY: Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. SIMILARITY: Contains 6 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 LRRNT domain. WEB RESOURCE: Name=GRIS; Note=Glycoprotein-hormone Receptors Information System; URL="http://gris.ulb.ac.be/"; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/LHRID288.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LHCGR"; WEB RESOURCE: Name=Sequence-structure-function-analysis of glycoprotein hormone receptors; URL="http://www.ssfa-gphr.de/"; GENE SYNONYMS: LCGR LGR2 LHRHR. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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