PLEKHG5

From Wikipedia, the free encyclopedia

Pleckstrin homology domain containing, family G (with RhoGef domain) member 5

Identifiers

PLEKHG5; DSMA4; GEF720; Syx; Tech

External IDs

OMIM: 611101 HomoloGene: 10768 GeneCards: PLEKHG5 Gene

Gene Ontology
Molecular function	• signal transducer activity • Rho guanyl-nucleotide exchange factor activity • phospholipid binding
Cellular component	• cytosol • plasma membrane • perinuclear region of cytoplasm
Biological process	• apoptotic process • small GTPase mediated signal transduction • regulation of Rho protein signal transduction • positive regulation of I-kappaB kinase/NF-kappaB cascade • endothelial cell migration • neurotrophin TRK receptor signaling pathway • regulation of small GTPase mediated signal transduction • apoptotic signaling pathway
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 1:
6.53 – 6.58 Mb

Chr 4:
152.07 – 152.12 Mb

PubMed search

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

↑ 1.0 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.

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