NMUR1

Chr 2

neuromedin U receptor 1

Also known as: (FM-3), FM-3, FM3, GPC-R, GPR66, NMU1R, hFM-3, hNmU-R1

NCBI Gene: 10316 ENSG00000171596 UniProt: Q9HB89 OMIM: 604153

This protein functions as a receptor for the neuromedin-U and neuromedin-S neuropeptides, mediating calcium and chloride signaling in neuronal membranes. Mutations in NMUR1 have been associated with neurodevelopmental disorders, though the gene shows low constraint to loss-of-function variants (pLI near 0, LOEUF 1.27), suggesting tolerance to such mutations. The inheritance pattern and specific clinical phenotypes require further characterization.

OMIM ResearchSummary from RefSeq, UniProt

Enables neuromedin U binding activity and neuromedin U receptor activity. Involved in several processes, including calcium-mediated signaling; chloride transport; and positive regulation of calcium-mediated signaling. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.27

LOEUF

Multiple*

Mechanism· predicted