Home
>
Product
>
Antibody
>
Rabbit Anti-LHR/FITC Conjugated antibody
background:
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]
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.
Tissue Specificity:
Gonadal and thyroid cells.
DISEASE:
Familial male precocious puberty (FMPP) [MIM:176410]: In FMPP the receptor is constitutively activated. Note=The disease is caused by mutations affecting the gene represented in this entry.
Luteinizing hormone resistance (LHR) [MIM:23864]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
Contains 6 LRR (leucine-rich) repeats.
Contains 1 LRRNT domain.
Database links:
Entrez Gene: 3973 Human
Entrez Gene: 25477 Rat
Omim: 152790 Human
SwissProt: P22888 Human
SwissProt: P16235 Rat
Unigene: 468490 Human
Unigene: 11216 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|