NKAP
Function
Acts as a transcriptional repressor (PubMed:14550261, PubMed:19409814, PubMed:31587868). Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development (PubMed:19409814). Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter.
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type
MRXSHD
An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the NKAP family.
Cellular localization
- Nucleus
Alternative names
NF-kappa-B-activating protein, NKAP