Entity Details

Primary name TAF13
Entity type gene
Source Source Link

Details

PrimaryID6884
RefseqGene
SymbolTAF13
NameTATA-box binding protein associated factor 13
Chromosome1
Location1p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTAF13_HUMAN

GO terms

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GOName
GO:0003677 DNA binding
GO:0005654 nucleoplasm
GO:0005669 transcription factor TFIID complex
GO:0005730 nucleolus
GO:0006352 DNA-templated transcription, initiation
GO:0006366 transcription by RNA polymerase II
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0008022 protein C-terminus binding
GO:0016251 RNA polymerase II general transcription initiation factor activity
GO:0017025 TBP-class protein binding
GO:0042795 snRNA transcription by RNA polymerase II
GO:0046982 protein heterodimerization activity
GO:1901796 regulation of signal transduction by p53 class mediator

Diseases

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Disease IDSourceNameDescription
617432 OMIMMental retardation, autosomal recessive 60 (MRT60)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly. MRT60 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.