DISEASES

Disease-gene associations mined from literature

Literature associating MRGPRX1 and isolated growth hormone deficiency type IB

MRGPRX1 [ENSP00000305766]

Sensory neuron-specific G-protein coupled receptor 3/4; Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins including BAM22 (bovine adrenal medulla peptide 22) and BAM (8-22). BAM22 is the most potent compound and evoked a large and dose-dependent release of intracellular calcium in stably transfected cells. G(alpha)q proteins are involved in the calcium-signaling pathway. Activated by the antimalarial drug, chloroquine. May mediate chloroquine- induced itch, in a histamine-independent manner; Belongs to the G-protein coupled receptor 1 family. Mas subfamily.

Synonyms:  MRGPRX1,  MRGPRX1p,  hMRGPRX1,  MGRG2,  Q96LB2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM