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MGP001815

UniProt Annotations

Entry Information
Gene Nameluteinizing hormone/choriogonadotropin receptor
Protein EntryLSHR_HUMAN
UniProt IDP22888
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=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;
DiseaseFamilial male precocious puberty (FMPP) [MIM:176410]: In FMPP the receptor is constitutively activated. {ECO:0000269|PubMed:11134146, ECO:0000269|PubMed:11391350, ECO:0000269|PubMed:7629248, ECO:0000269|PubMed:7692306, ECO:0000269|PubMed:7714085, ECO:0000269|PubMed:7757065, ECO:0000269|PubMed:8281137, ECO:0000269|PubMed:8829636, ECO:0000269|PubMed:8929952, ECO:0000269|PubMed:9467560, ECO:0000269|PubMed:9661624}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLuteinizing hormone resistance (LHR) [MIM:238320]: 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. {ECO:0000269|PubMed:12050206, ECO:0000269|PubMed:15372531, ECO:0000269|PubMed:15472221, ECO:0000269|PubMed:19551906, ECO:0000269|PubMed:7719343, ECO:0000269|PubMed:8559204, ECO:0000269|PubMed:9215288, ECO:0000269|PubMed:9514160, ECO:0000269|PubMed:9626144, ECO:0000269|PubMed:9626653}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionReceptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.
SimilarityBelongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.
SimilarityContains 1 LRRNT domain. {ECO:0000305}.
SimilarityContains 6 LRR (leucine-rich) repeats. {ECO:0000305}.
Subcellular LocationCell membrane; Multi-pass membrane protein.
Tissue SpecificityGonadal and thyroid cells.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/LHRID288.html";
Web ResourceName=GRIS; Note=Glycoprotein-hormone Receptors Information System; URL="http://gris.ulb.ac.be/";
Web ResourceName=Sequence-structure-function-analysis of glycoprotein hormone receptors; URL="http://www.ssfa-gphr.de/";
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