PLEKHG5

Jump to navigation Jump to search
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/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.[1] 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.[1]

Clinical significance

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

References

  1. 1.0 1.1 "Entrez Gene: Pleckstrin homology domain containing, family G (with RhoGef domain) member 5".

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