LSHR Antibody – Rabbit

This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor 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. [provided by RefSeq, Jul 2008]

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: GPCR, family 1; Membrane protein, integral; Receptor, GPCR; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 2p21

Cellular Component: integral to plasma membrane; plasma membrane; endosome

Molecular Function: lutropin-choriogonadotropic hormone receptor activity

Biological Process: G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor protein signaling pathway; male gonad development; adenylate cyclase activation; male genitalia development; G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); positive regulation of inositol trisphosphate biosynthetic process; luteinizing hormone signaling pathway; cognition

Disease: Precocious Puberty, Male-limited; Leydig Cell Hypoplasia, Type I