DISEASES

Disease-gene associations mined from literature

Literature associating SMARCA1 and CHARGE syndrome

SMARCA1 [ENSP00000360162]

Probable global transcription activator SNF2L1; Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP- dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be involved in the development of luteal cells. ; Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.

Synonyms:  SMARCA1,  SMARCA1p,  hSMARCA1,  A0A0A0MRP6,  B7ZLQ5 ...

Linkouts:  STRING  Pharos  UniProt