PLEKHG5
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
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Location (UCSC) | n/a | n/a | |||||
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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
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.