MXD1
Description
The MXD1 (MAX dimerization protein 1) is a protein-coding gene located on chromosome 2.
The MXD1 gene encodes MAD protein, a member of the MAX-interacting protein subfamily. MAD protein competes with MYC for binding to MAX, forming a sequence-specific DNA-binding complex. This complex acts as a transcriptional repressor, while MYC functions as an activator. MXD1 is considered a candidate tumor suppressor.
MXD1, in conjunction with MAX, forms a transcriptional repressor complex. This complex binds to a specific DNA sequence (5'-CAC[GA]TG-3') and inhibits the transcriptional activity of MYC by competing for binding with MAX. Additionally, MXD1 binds to the TERT promoter and suppresses telomerase expression, potentially by preventing MYC from binding.
MXD1 is also known as BHLHC58, MAD, MAD1.
Associated Diseases
- classic Hodgkin lymphoma
- hyper-IgM syndrome type 3
- severe combined immunodeficiency due to CARD11 deficiency
- reticular dysgenesis
- neutropenia, severe congenital, 1, autosomal dominant
- agammaglobulinemia 7, autosomal recessive
- immunodeficiency 18
