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The mutations in the MRAP gene caused the congenital disorder familial glucocorticoid deficiency type 2 (FGD-2). FGD-2 is an autosomal recessive disease with early childhood onset of recurrent infections, hypoglycaemia, skin hyperpigmentation, and failure to thrive due to low glucocorticoids levels. If left untreated, it could be fatal.
Glucocorticoid deficiency can be caused by inherited genetic disorders that affect the production of cortisol in the adrenal glands, such as familial glucocorticoid deficiency (FGD). [3] FGD is a group of monogenic recessive disorders caused by disease-causing variants in genes involved in cortisol biosynthesis. [ 4 ]
Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH. This is an inherited disorder with several different causes which define the type.
As current glucocorticoid therapy regiments fail to replicate the physiologic circadian rhythm and the glucocorticoids are often administered at a higher dose to treat androgen excess, the long-term consequences of the therapy, such as decreased bone density and an increased cardiometabolic risk profile, [99] should be addressed; other ...
229004 Ensembl ENSG00000101216 ENSMUSG00000038705 UniProt Q9UKD1 P58929 RefSeq (mRNA) NM_012384 NM_198169 RefSeq (protein) NP_036516 NP_937812 Location (UCSC) Chr 20: 63.59 – 63.63 Mb Chr 2: 180.89 – 180.93 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Glucocorticoid modulatory element-binding protein 2 is a protein that in humans is encoded by the GMEB2 gene. This gene is a ...
The adrenocorticotropic hormone receptor or ACTH receptor also known as the melanocortin receptor 2 or MC 2 receptor is a type of melanocortin receptor (type 2) which is specific for ACTH. [5] A G protein–coupled receptor located on the external cell plasma membrane, it is coupled to G αs and upregulates levels of cAMP by activating adenylyl ...
MRAP2 is found in the adrenal gland where MRAP is known to regulate MC 2 surface expression and function. [21] In vivo studies had revealed MRAP2 to interact with MC 2 leading to an increase in the receptor surface expression as well as enhancing the response of the receptor to adrenocorticotropic hormone (ACTH) stimulation. [6]
The glucocorticoid receptor (GR or GCR) also known as NR3C1 (nuclear receptor subfamily 3, group C, member 1) is the receptor to which cortisol and other glucocorticoids bind. The GR is expressed in almost every cell in the body and regulates genes controlling the development , metabolism , and immune response .