Aliases for SMARCAD1 Gene
External Ids for SMARCAD1 Gene
Previous GeneCards Identifiers for SMARCAD1 Gene
This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for SMARCAD1 Gene
SMARCAD1 (SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1) is a Protein Coding gene. Diseases associated with SMARCAD1 include adermatoglyphia and epilepsy, familial temporal lobe, 1. Among its related pathways are AMPK Enzyme Complex Pathway and Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include nucleic acid binding and helicase activity.
UniProtKB/Swiss-Prot for SMARCAD1 Gene
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.