MCF2L

Chr 13

MCF.2 cell line derived transforming sequence like

Also known as: ARHGEF14, DBS, OST

NCBI Gene: 23263 ENSG00000126217 UniProt: O15068

The protein is a guanine nucleotide exchange factor that catalyzes nucleotide exchange on RHOA and CDC42, regulating these critical cellular signaling pathways. MCF2L is highly constrained against loss-of-function variants, but specific neurogenetic disorders caused by mutations in this gene have not been well-established in the medical literature. The gene shows strong evolutionary conservation suggesting biological importance, but clear genotype-phenotype correlations require further clinical documentation.

ResearchSummary from RefSeq, UniProt

This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.50

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)