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Protein-coding gene in the species Homo sapiens
Transcription initiation factor TFIID subunit 8 is a protein that in humans is encoded by the TAF8 gene .[ 5]
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.[ 5]
Clinical significance [ edit ] Mutations of the TAF8 gene cause a neurodegenerative disorder first described in 2022[ 6] microcephaly , growth retardation , spasticity and epilepsy .
^ a b c GRCh38: Ensembl release 89: ENSG00000137413 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023980 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: TBN taube nuss homolog (mouse)" .^ Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P (June 2022). "Mutations in TAF8 cause a neurodegenerative disorder" . Brain: A Journal of Neurology . 145 (9): 3022–3034. doi :10.1093/brain/awac154 PMID 35759269 .
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