Disease-gene associations mined from literature

Literature associating GTF2IRD1 and supravalvular aortic stenosis

GTF2IRD1 [ENSP00000397566]

General transcription factor II-I repeat domain-containing protein 1; May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity).

Synonyms:  GTF2IRD1,  E9PFE2,  GTF2IRD1-001,  GTF2IRD1-002,  GTF2IRD1-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM