MRAP
Function
Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells.
Involvement in disease
Glucocorticoid deficiency 2
GCCD2
A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the MRAP family.
Tissue Specificity
Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues.
Cellular localization
- Cell membrane
- Single-pass membrane protein
- Endoplasmic reticulum membrane
- Single-pass membrane protein
- The formation of antiparallel homo- and heterodimers suggest that N- and C-terminus can both localize in the cytoplasmic and extracellular parts, depending on the context (PubMed:20371771). Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm.
Alternative names
C21orf61, FALP, MRAP, Melanocortin-2 receptor accessory protein, B27, Fat cell-specific low molecular weight protein, Fat tissue-specific low MW protein