RLN3

Chr 19

relaxin 3

Also known as: H3, RXN3, ZINS4, insl7

NCBI Gene: 117579 ENSG00000171136 UniProt: Q8WXF3 OMIM: 606855

The RLN3 protein is a neuropeptide hormone that functions as a ligand for receptors LGR7, RXFP3, and RXFP4, regulating stress, memory, and appetite in the brain. Mutations in RLN3 cause neurodevelopmental disorders with intellectual disability and behavioral abnormalities, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (low constraint), suggesting that complete loss of function may be required for disease manifestation.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.66

LOEUF

Mechanism· predicted