KEGG VARIANT: 8517v2

VARIANT: 8517v2

Entry

8517v2                      Variant

Name

IKBKG mutation

Type

Gain of function

Gene

IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [KO:K07210]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

E391Ter
ClinVar: 11453
dbSNP: rs137853324

Network

nt06516 TNF signaling

Disease

Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)

Reference

Authors

Zilberman-Rudenko J, Shawver LM, Wessel AW, Luo Y, Pelletier M, Tsai WL, Lee Y, Vonortas S, Cheng L, Ashwell JD, Orange JS, Siegel RM, Hanson EP

Title

Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-kappaB activation and autoinflammatory disease.

Journal

Proc Natl Acad Sci U S A 113:1612-7 (2016)
DOI:10.1073/pnas.1518163113

Reference

Authors

Maubach G, Schmadicke AC, Naumann M

Title

NEMO Links Nuclear Factor-kappaB to Human Diseases: (Trends Mol Med. 23, 1138-1155; 2017).

Journal

Trends Mol Med 24:654 (2018)
DOI:10.1016/j.molmed.2018.01.009

LinkDB

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