TAF2encodes one of the subunits of the TFIID complex, which plays a critical role in the initiation of gene transcription by RNA polymerase II. This complex recognizes core promoter regions and facilitates the recruitment of additional transcriptional machinery. TAF2stabilizes TFIID binding to core promoter.
Pathogenic variants in TAF2are rare. The mode of inheritance is autosomal recessive. Currently all reported pathogenic variants are missenses.
Diagnosis/testing
Mutations in TAF2can be identified by molecular genetic testing, typically through exome or genome sequencing.
TAF2