PLEKHG5

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Pleckstrin homology domain containing, family G member 5 (PLEKHG5) is a protein that in humans is encoded by the PLEKHG5 gene. Multiple transcript variants encoding different isoforms have been found for this gene.

Function

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway.

Clinical significance

Mutations in the PLEKHG5 gene are associated with distal spinal muscular atrophy type 4.

References

This article incorporates text from the United States National Library of Medicine, which is in the public domain.