Literature associating GTF2IRD1 and supravalvular aortic stenosis
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 ...