human SMARCAD1 Over-expression AAV

ADERM; ATP-dependent helicase 1; BASNS; ETL1; HEL1; hHEL1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

The SMARCs (SWI/SNF-related, matrix-associated, actin-dependent regulators of chromatin), and BAFs (BRG1-associated factors), have been identified as components of the mammalian SWI/SNF-like chromatin-remodeling protein complexes. These multi-protein complexes are proposed to function as ATP-driven motors that translocate along DNA and destabilize nucleosomal structures to facilitate transcription factor binding. SMARCAD1/ETL1 is a unique member of this family in that it contains two DEAD/H box motifs, and thus is also a member of the DEAD/H-box-containing helicase superfamily. The chromosomal position of SMARCAD1 has been mapped, and it resides in a region rich in breakpoints and deletions associated with several human diseases. It is suggested to play a role in genetic instability and development.

SMARCAD1 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.

56916

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

SMARCAD1

HGNC:18398

9606.0

3087

3087 bp

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

NM_020159

NM_020159, NM_001254949, NM_001128430, NM_001128429, BC045534,

Cell Cycle,Chromatin Remodeling,DNA Damage/Repair,Helicase Activity,Histone Modification,Replication,Transcription Factor/Regulator

cell_biology,cell_cycle,genetics,transcription_translation

human

The SMARCs (SWI/SNF-related, matrix-associated, actin-dependent regulators of chromatin), and BAFs (BRG1-associated factors), have been identified as components of the mammalian SWI/SNF-like chromatin-remodeling protein complexes. These multi-protein complexes are proposed to function as ATP-driven motors that translocate along DNA and destabilize nucleosomal structures to facilitate transcription factor binding. SMARCAD1/ETL1 is a unique member of this family in that it contains two DEAD/H box motifs, and thus is also a member of the DEAD/H-box-containing helicase superfamily. The chromosomal position of SMARCAD1 has been mapped, and it resides in a region rich in breakpoints and deletions associated with several human diseases. It is suggested to play a role in genetic instability and development.

Hs.410406

Q9H4L7