LHCGR

LHCGR is the receptor for both luteinizing hormone and choriogonadotropin. LHCGR belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. Diseases associated with LHCGR include Precocious Puberty, Male-Limited and Leydig Cell Hypoplasia, Type I. Among its related pathways are Ovarian steroidogenesis and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and luteinizing hormone receptor activity. An important paralog of this gene is FSHR.

Full Name

lutropin-choriogonadotropic hormone receptor precursor

Function

Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099).
The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099).

Biological Process

Activation of adenylate cyclase activityISS:BHF-UCL
Adenylate cyclase-activating G protein-coupled receptor signaling pathwayISS:BHF-UCL
Cellular response to gonadotropin stimulusISS:BHF-UCL
Cellular response to luteinizing hormone stimulusManual Assertion Based On ExperimentIMP:UniProtKB
CognitionManual Assertion Based On ExperimentIMP:UniProtKB
G protein-coupled receptor signaling pathwayManual Assertion Based On ExperimentTAS:ProtInc
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messengerManual Assertion Based On ExperimentTAS:ProtInc
Hormone-mediated signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Luteinizing hormone signaling pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Male genitalia developmentManual Assertion Based On ExperimentTAS:ProtInc
Male gonad developmentManual Assertion Based On ExperimentIBA:GO_Central
Ovarian follicle developmentManual Assertion Based On ExperimentIBA:GO_Central
Ovulation cycle processManual Assertion Based On ExperimentIBA:GO_Central
Phospholipase C-activating G protein-coupled receptor signaling pathwayISS:BHF-UCL
Positive regulation of inositol trisphosphate biosynthetic processISS:BHF-UCL

Cellular Location

Cell membrane

Involvement in disease

Familial male precocious puberty (FMPP):
In FMPP the receptor is constitutively activated.
Luteinizing hormone resistance (LHR):
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.

Topology

Extracellular: 27-363
Helical: 364-385
Cytoplasmic: 386-395
Helical: 396-416
Extracellular: 417-439
Helical: 440-462
Cytoplasmic: 463-482
Helical: 483-505
Extracellular: 506-525
Helical: 526-549
Cytoplasmic: 550-570
Helical: 571-594
Extracellular: 595-605
Helical: 606-627
Cytoplasmic: 628-699

PTM

Sulfated.