TAF13 Chromosome 1
TATA-box binding protein associated factor 13
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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 a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
General transcription factor IID complex subunits
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000197780
Associated Conditions (2)
Intellectual disability
autosomal recessive 60
Key Variants
RS2102105455
Likely pathogenic
Intellectual disability, autosomal recessive 60, Intellectual disability
Health Risk
RS1060505029
Pathogenic
Intellectual disability, autosomal recessive 60, Intellectual disability
Health Risk
RS1060505030
Pathogenic
Intellectual disability, autosomal recessive 60, Intellectual disability
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2102105455 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 60, Intellectual disability |
| RS1060505029 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 60, Intellectual disability |
| RS1060505030 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 60, Intellectual disability |