ARHGEF37

Chr 5

Rho guanine nucleotide exchange factor 37

NCBI Gene: 389337 ENSG00000183111 UniProt: A1IGU5 OMIM: 620664

The ARHGEF37 protein is a guanine nucleotide exchange factor involved in clathrin-mediated endocytosis, particularly in the late stages of this cellular process. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures and developmental delays. This gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable guanyl-nucleotide exchange factor activity. Involved in clathrin-dependent endocytosis. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.07

LOEUF

Multiple*

Mechanism· predicted