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Rabbit Anti-ACTHR/FITC Conjugated antibody
background:
MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency.
Function:
Receptor for ACTH. This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase.
Subunit:
Interacts with FALP/MRAP.
Subcellular Location:
Cell membrane; Multi-pass membrane protein.
Tissue Specificity:
Melanocytes and corticoadrenal tissue.
DISEASE:
Defects in MC2R are the cause of glucocorticoid deficiency type 1 (GCCD1) [MIM:20440]; also known as familial glucocorticoid deficiency type 1 (FGD1). GCCD1 is an autosomal recessive disorder due to congenital insensitivity or resistance to adrenocorticotropin (ACTH). It is characterized by progressive primary adrenal insufficiency, without mineralocorticoid deficiency.
Similarity:
Belongs to the G-protein coupled receptor 1 family.
Database links:
Entrez Gene: 48796 Dog
Entrez Gene: 4158 Human
Entrez Gene: 11440 Mouse
Entrez Gene: 282839 Rat
Omim: 607397 Human
SwissProt: Q01718 Human
SwissProt: Q64326 Mouse
Unigene: 248144 Human
Unigene: 426053 Mouse
Unigene: 9292 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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