BTAF1
Homo sapiens
Gene Name: RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)
Aliases: MOT1, TAF(II)170, TAF172, TAFII170
Chromosome No: 10
Chromosome Band: 10q23.32
Genetic Category: Rare Single Gene variant-
Aliases: MOT1, TAF(II)170, TAF172, TAFII170
Chromosome No: 10
Chromosome Band: 10q23.32
Genetic Category: Rare Single Gene variant-
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 4
Evidence score: 3
ASD Reports: 9
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A rare duplication in the BTAF1 gene has been identified with ASD (Salyakina et al., 2011).
Molecular Function
This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
ASD
AS
Support
Whole exome sequencing in females with autism implicates novel and candidate genes.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
