PLEKHG4B

Chr 5

pleckstrin homology and RhoGEF domain containing G4B

Also known as: ARHGEF48

NCBI Gene: 153478 ENSG00000153404 UniProt: Q96PX9 OMIM: 620665

The protein functions as a guanine nucleotide exchange factor that specifically activates CDC42 by exchanging GDP for GTP, regulating actin cytoskeletal remodeling during cell-cell junction formation. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and motor abnormalities. The gene shows minimal constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.22

LOEUF

GOF

Mechanism· predicted