Literature associating SMARCD2 and triple-A syndrome
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 ...