DISEASES

Disease-gene associations mined from literature

Literature associating SMARCA1 and CHARGE syndrome

SMARCA1 [ENSP00000360162]

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1; 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; Myb/SANT domain containing

Synonyms:  SMARCA1,  SMARCA1p,  hSMARCA1,  B7ZLQ5,  P28370 ...

Linkouts:  STRING  Pharos  UniProt