SMARCAD1 : SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Description
The SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1) is a protein-coding gene located on chromosome 4.
The SMARCAD1 gene encodes two protein isoforms: a full-length isoform expressed in multiple tissues and a shorter, skin-specific isoform. The full-length isoform regulates the activity of various genes involved in maintaining cellular genetic stability. The skin-specific isoform is expressed only in skin cells and is involved in the formation of dermatoglyphs, the unique fingerprint patterns on fingers, toes, palms, and soles. The development of these patterns before birth determines a person's unique fingerprint.
SMARCAD1 is a DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. It plays essential roles in both DNA repair and heterochromatin organization. Following DNA damage, SMARCAD1 promotes DNA end resection of double-strand breaks (DSBs) by weakening histone DNA interactions in nucleosomes flanking the break. After replication, SMARCAD1 is required for the restoration of heterochromatin organization. It acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histone deacetylation, H3 'Lys-9' trimethylation (H3K9me3), and restoration of silencing.
SMARCAD1 is also known as ADERM, BASNS, ETL1, HEL1, HRZ, TYS.
Associated Diseases
- Absence of fingerprints-congenital milia syndrome
- Huriez syndrome
- Basan syndrome
- Fingerprints, absence of
- Adermatoglyphia
