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MRAP

Chr 21q22.11

melanocortin 2 receptor accessory protein

Aliases:
B27, FALP, MRAP1
MANE:
ENST00000303645.10

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital adrenal hypoplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

Disease associations (Open Targets)

  • familial glucocorticoid deficiency

    0.71
  • hypertensive disorder

    0.50
  • atrial fibrillation

    0.43
  • Increased blood pressure

    0.39
  • Cytomegalic congenital adrenal hypoplasia

    0.37
  • response to xenobiotic stimulus

    0.32
  • Abnormality of the skeletal system

    0.32
  • cardiovascular disorder

    0.32
  • essential hypertension

    0.32
  • hereditary disease

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Melanocortin-2 receptor accessory protein

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

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.