REM1

Chr 20

RRAD and GEM like GTPase 1

Also known as: GD:REM, GES

NCBI Gene: 28954 ENSG00000088320 UniProt: O75628 OMIM: 610388

The REM1 protein is a RAS-like GTPase that promotes endothelial cell sprouting and reorganizes the actin cytoskeleton in endothelial cells, potentially functioning in angiogenesis and calcium signaling. Mutations cause autosomal recessive cerebroretinal microangiopathy with calcifications and cysts, a neurovascular disorder affecting the brain and retina. This gene is extremely intolerant to loss-of-function variants, indicating that complete loss of REM1 function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.44

LOEUF

Multiple*

Mechanism· predicted