TAF8

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Transcription initiation factor TFIID subunit 8 is a protein that in humans is encoded by the TAF8 gene.[5]

PDBOrtholog search: PDBe RCSB
AliasesTAF8, 43, II, TAF, TAFII-43, TAFII43, TBN, TATA-box binding protein associated factor 8, TAF(II)43
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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
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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

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

Further reading

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