DISEASES

Disease-gene associations mined from literature

Literature associating SMARCD2 and triple-A syndrome

SMARCD2 [ENSP00000392617]

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation; Belongs to the SMARCD family.

Synonyms:  SMARCD2,  SMARCD2p,  hSMARCD2,  B9EGA3,  J3KMX2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM