MXD4
Description
The MXD4 (MAX dimerization protein 4) is a protein-coding gene located on chromosome 4.
MXD4 is a protein encoded by the MXD4 gene in humans. It belongs to the MAD gene family, which encodes basic helix-loop-helix-leucine zipper proteins that form transcriptional repression complexes by heterodimerizing with MAX protein. These MAD proteins compete with MYC for MAX binding, which forms a transcriptional activation complex when bound to MAX. Studies in rodents suggest that MAD genes act as tumor suppressors and regulate cell growth in differentiating tissues.
MXD4 is a transcriptional repressor that binds to MAX, forming a DNA-binding complex that recognizes the sequence 5'-CAC[GA]TG-3'. This complex antagonizes MYC's transcriptional activity by competing for MAX, preventing MYC-dependent cell transformation.
MXD4 is also known as MAD4, MST149, MSTP149, bHLHc12.
Associated Diseases
- Brugada syndrome
- dilated cardiomyopathy 1L
- arrhythmogenic right ventricular dysplasia 10
- progressive familial heart block, type 1A
- 22q11.2 deletion syndrome
- familial atrial fibrillation
- familial sick sinus syndrome
- dilated cardiomyopathy 1E
- hypoparathyroidism, familial isolated, 2
