TAF8 Chromosome 6
TATA-box binding protein associated factor 8
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What This Gene Does
This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
General transcription factor IID complex subunits
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000137413
Associated Conditions (11)
Neurodevelopmental disorder with severe motor impairment
absent language
cerebral hypomyelination
and brain atrophy
Neurodevelopmental disorder
Microcephaly
Partial agenesis of the corpus callosum
Severe global developmental delay
TAF8-related disorder
Papillary renal cell carcinoma type 1
Nonpapillary renal cell carcinoma
Key Variants
RS1384148842
Likely pathogenic
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination
Health Risk
RS2127446222
Pathogenic
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination
Health Risk
RS2127459499
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2127464524
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS371261267
Pathogenic
Microcephaly, Partial agenesis of the corpus callosum, Severe global developmental delay
Health Risk
RS554917914
Pathogenic
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1384148842 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination |
| RS2127446222 | Health Risk | Pathogenic | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination |
| RS2127459499 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2127464524 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS371261267 | Health Risk | Pathogenic | Microcephaly, Partial agenesis of the corpus callosum, Severe global developmental delay |
| RS554917914 | Health Risk | Pathogenic | Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination |