HDAC8 Gene

Histones play a crucial role in transcriptional regulation, cell cycle progression and developmental processes. The acetylation/deacetylation of histones changes the chromosome structure and influences the access of transcription factors to DNA.

The protein encoded by this gene, histone deacetylase 8, belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the N-terminal tails of the histone and represses transcription in large multiprotein complexes with transcriptional co-repressors. It catalyzes the deacetylation of lysine residues at the N-terminal part of core histones (H2A, H2B, H3 and H4).

Note: Histone deacetylation is a marker for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental processes. Histone deacetylases act by forming large multiprotein complexes. The enzyme may play a role in the contractility of smooth muscle cells.

Diseases associated with HDAC8 include:

• Cornelia De Lange syndrome 5
• and
• Cornelia De Lange syndrome.

Furthermore, associations with Dubowitz syndrome have been described (Dyment DA et al. 2021).

1. Dyment DA et al (2021) Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185: 119-133.
2. Paradisi M et al (1994) Dubowitz syndrome with keloidal lesions. Clin Exp Dermatol 19:425-427.