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TAF8

From Wikipedia, the free encyclopedia
TAF8
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTAF8, 43, II, TAF, TAFII-43, TAFII43, TBN, TATA-box binding protein associated factor 8, TAF(II)43
External IDsOMIM: 609514; MGI: 1926879; HomoloGene: 11094; GeneCards: TAF8; OMA:TAF8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_138572

NM_022015
NM_001356290

RefSeq (protein)

NP_612639

NP_071298
NP_001343219

Location (UCSC)Chr 6: 42.05 – 42.09 MbChr 17: 47.79 – 47.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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Mutations of the TAF8 gene cause a neurodegenerative disorder first described in 2022[6] and presenting as severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137413Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023980Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: TBN taube nuss homolog (mouse)".
  6. ^ 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.

Further reading

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