Disease-gene associations mined from literature

Literature associating SMARCAD1 and BASAN syndrome

SMARCAD1 [ENSP00000351947]

ATP-dependent helicase 1; DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing.

Synonyms:  SMARCAD1,  D6RAY8,  F8W9M2,  Q9H4L7,  D6RAY8p ...

Linkouts:  STRING  Pharos  UniProt  OMIM