MTNR1A

Chr 4

melatonin receptor 1A

Also known as: MEL-1A-R, MT1

NCBI Gene: 4543 ENSG00000168412 UniProt: P48039 OMIM: 600665

This protein is a high-affinity G-protein coupled receptor for melatonin that mediates circadian rhythm and reproductive functions, primarily localized to the hypothalamic suprachiasmatic nucleus and pituitary. Mutations cause autosomal recessive nonsyndromic intellectual disability and may be associated with sleep disorders given the gene's role in melatonin signaling. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with recessive inheritance requiring biallelic mutations for disease manifestation.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.77

LOEUF

Multiple*

Mechanism· predicted

📖