TAF6 Chromosome 7
TATA-box binding protein associated factor 6
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What This Gene Does
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"Armadillo like helical domain containing|General transcription factor IID complex subunits"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000106290
Associated Conditions (8)
TAF6-related disorder
Intellectual disability
Syndromic intellectual disability
Abnormal facial shape
Global developmental delay
Alazami-Yuan syndrome
Inborn genetic diseases
Cornelia de Lange syndrome 1
Key Variants
RS144875978
Conflicting classifications of pathogenicity
TAF6-related disorder, Intellectual disability, TAF6-related disorder
Health Risk
RS374993554
Conflicting classifications of pathogenicity
Syndromic intellectual disability, Abnormal facial shape, Global developmental delay
Health Risk
RS768942294
Conflicting classifications of pathogenicity
Alazami-Yuan syndrome, Alazami-Yuan syndrome
Health Risk
RS1131691405
Likely pathogenic
Health Risk
RS1554387469
Likely pathogenic
Health Risk
RS1457450946
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS727503778
Pathogenic
Cornelia de Lange syndrome 1, Alazami-Yuan syndrome, Cornelia de Lange syndrome 1
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144875978 | Health Risk | Conflicting classifications of pathogenicity | TAF6-related disorder, Intellectual disability, TAF6-related disorder |
| RS374993554 | Health Risk | Conflicting classifications of pathogenicity | Syndromic intellectual disability, Abnormal facial shape, Global developmental delay |
| RS768942294 | Health Risk | Conflicting classifications of pathogenicity | Alazami-Yuan syndrome, Alazami-Yuan syndrome |
| RS1131691405 | Health Risk | Likely pathogenic | — |
| RS1554387469 | Health Risk | Likely pathogenic | — |
| RS1457450946 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS727503778 | Health Risk | Pathogenic | Cornelia de Lange syndrome 1, Alazami-Yuan syndrome, Cornelia de Lange syndrome 1 |