IKBKG

(redirected from NEMO gene)

IKBKG

A gene on chromosome Xq28 that encodes a regulatory subunit of the IKK core complex which plays a key role in the NF-kappa-B signalling pathway by phosphorylating inhibitors in the inhibitor/NF-kappa-B complex (comprised of 3 subunits: IKBKA (IKKalpha/IKK1), IKBKB (IKKbeta/IKK2) and IKBKG (NEMO)), causing inhibitor dissociation and NF-kappa-B activation. The NF-kappa-B signalling pathway is activated by multiple stimuli, including inflammatory cytokines, bacterial or viral products, DNA damage, or other cellular stresses.

Molecular pathology
IKBKG mutations are linked to:
• Ectodermal dysplasia anhidrotic with immunodeficiency X-linked;
• Ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis-lymphoedema; and
• X-linked familial atypical micobacteriosis type 1.
References in periodicals archive ?
Mutation analysis of NEMO gene confirms the clinical diagnosis and is necessary for prenatal diagnosis in future pregnancies.
Both mother and daughter had the deletion of NEMO gene thus confirming the diagnosis.
The deletion in NEMO gene was analyzed by two PCR reactions according to the protocol described earlier (6,7).
PCR showed that the index case in all the families had a band corresponding to the deletion of exon 4-10 in NEMO gene (1045 bp; Fig.
If parents have a deletion in the NEMO gene, risk is 50 per cent to all offsprings (male and females).
Multiplex PCR of the NEMO gene was done first which showed 1045 bp band in all four cases.
Hence, if deletion is absent sequencing of NEMO gene would be required.

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