BAHD1
Description
The BAHD1 (bromo adjacent homology domain containing 1) is a protein-coding gene located on chromosome 15.
BAHD1 is a heterochromatin protein that functions as a transcription repressor, promoting the formation of large heterochromatic domains. It achieves this by recruiting heterochromatin proteins like CBX5 (HP1 alpha), HDAC5, and MBD1. BAHD1 also represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. During specific stages of Listeria infection, BAHD1, in complex with TRIM28, corepresses interferon-stimulated genes such as IFNL1, IFNL2, and IFNL3.
BAHD1 is also known as -.
Associated Diseases
- immunodeficiency 28
- recurrent Neisseria infections due to factor D deficiency
- combined immunodeficiency with skin granulomas
- severe combined immunodeficiency due to IKK2 deficiency
- immunodeficiency 19
- X-linked severe congenital neutropenia
- combined immunodeficiency due to moesin deficiency
- reticular dysgenesis
- 22q11.2 deletion syndrome
- immunodeficiency 18
- agammaglobulinemia 7, autosomal recessive
- epidermodysplasia verruciformis
