DISEASES

Disease-gene associations mined from literature

Literature associating GTF2H2 and juvenile spinal muscular atrophy

GTF2H2 [ENSP00000328901]

General transcription factor IIH, polypeptide 2, 44kDa; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. The N-terminus interacts with and regulates XPD whereas an intact C- terminus is required for a successful escape of RNAP II form the promoter; Belongs to the GTF2H2 family.

Synonyms:  GTF2H2,  GTF2H2p,  hGTF2H2,  Q13888,  BTF2P44 ...

Linkouts:  STRING  Pharos  UniProt