DISEASES

Disease-gene associations mined from literature

Literature associating GTF2H5 and autosomal recessive disease

GTF2H5 [ENSP00000476100]

TFIIH basal transcription factor complex TTD-A subunit; Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell; General transcription factors

Synonyms:  GTF2H5,  GTF2H5p,  hGTF2H5,  Q6ZYL4,  C6orf175 ...

Linkouts:  STRING  Pharos  UniProt