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plekhg5

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Official Full Name
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
Background
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Multations in this gene have been found in a family with distal spinal muscular atrophy.
Synonyms
PLEKHG5; pleckstrin homology domain containing, family G (with RhoGef domain) member 5; pleckstrin homology domain-containing family G member 5; KIAA0720; NFkB activating protein; novel PH domain-containing protein; PH domain-containing family G member 5

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