NKAP Chromosome X
NFKB activating protein
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What This Gene Does
This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]
Associated Conditions (5)
Intellectual developmental disorder
X-linked
syndromic
Hackmann-Di Donato type
Inborn genetic diseases
Key Variants
RS1603379779
Conflicting classifications of pathogenicity
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS1603379780
Conflicting classifications of pathogenicity
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS1603379781
Conflicting classifications of pathogenicity
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS751840434
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1603379772
Pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS2147845271
Pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603379779 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, X-linked, syndromic |
| RS1603379780 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, X-linked, syndromic |
| RS1603379781 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, X-linked, syndromic |
| RS751840434 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1603379772 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS2147845271 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic |