NOMO3

Chr 16

NODAL modulator 3

Also known as: Nomo

NCBI Gene: 408050 ENSG00000103226 UniProt: P69849

NOMO3 encodes a component of the multi-pass translocon complex that mediates insertion of multi-pass membrane proteins into cellular membranes, working alongside the SEC61 complex during protein insertion. The gene is not well-established as a cause of human disease, with loss-of-function variants appearing to be well-tolerated based on population constraint metrics. NOMO3 is part of a highly duplicated gene family on chromosome 16, which may provide functional redundancy.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.81

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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