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IKBKG - inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
- Synonym(s) : FIP3, FIP-3, Fip3p, IKK-gamma, NEMO, ZC2HC9
- Previous symbols and names : IP1, IP2, incontinentia pigmenti, inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma, inhibitor of nuclear factor kappa B kinase subunit gamma
- Type : gene with protein product
- Chromosomal location : Xq28
- OMIM: 300248
- HGNC: 5961
- UniProtKB: Q9Y6K9
- Genatlas: IKBKG
- GenCC: IKBKG
- Ensembl: ENSG00000269335
- IUPHAR-DB: -
- Reactome: Q9Y6K9
- LOVD: IKBKG
Diseases list
- Disease-causing germline mutation(s) in Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
ORPHA:69088 
- Disease-causing germline mutation(s) in Hypohidrotic ectodermal dysplasia with immunodeficiency
ORPHA:98813 - Disease-causing germline mutation(s) in Incontinentia pigmenti
ORPHA:464 - Disease-causing germline mutation(s) in X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
ORPHA:319612
: AssessedAdditional information
Patient-centred resources for this gene
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