LHR: Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Defects in LHCGR are a cause of familial male precocious puberty (FMPP); also known as testotoxicosis. In FMPP the receptor is constitutively activated. Defects in LHCGR are the cause of luteinizing hormone resistance (LHR); 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. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; GPCR, family 1; Receptor, GPCR; Membrane protein, integral
Cellular Component: extracellular space; membrane; endoplasmic reticulum; integral to plasma membrane; lysosome; cytoplasm; integral to membrane; plasma membrane; nucleus; receptor complex; endosome
Molecular Function: lutropin-choriogonadotropic hormone receptor activity; G-protein coupled receptor activity; identical protein binding; signal transducer activity; protein homodimerization activity; peptide hormone binding; protein-hormone receptor activity; peptide receptor activity, G-protein coupled; ATPase binding
Biological Process: protein targeting to lysosome; hormone-mediated signaling; male gonad development; adenylate cyclase activation; positive regulation of calcium-mediated signaling; positive regulation of inositol trisphosphate biosynthetic process; luteinizing hormone signaling pathway; arachidonic acid secretion; uterus development; signal transduction; G-protein signaling, coupled to cAMP nucleotide second messenger; ovulation cycle process; G-protein coupled receptor protein signaling pathway; ovarian follicle development; positive regulation of hormone biosynthetic process; development of secondary male sexual characteristics; spermatogenesis; G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); positive regulation of release of sequestered calcium ion into cytosol; cognition; female gonad development
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