DMBX1
Description
The DMBX1 (diencephalon/mesencephalon homeobox 1) is a protein-coding gene located on chromosome 1.
DMBX1 acts as a transcriptional repressor, potentially suppressing the activation of OTX2 by forming a complex with it. This interaction occurs on the P3C DNA sequence (5'-TAATCCGATTA-3'). DMBX1 is crucial for proper brain development.
DMBX1 is also known as Atx, MBX, OTX3, PAXB.
Associated Diseases
- multiple sclerosis
- lysosomal storage disease
- Alzheimer disease
- Parkinson disease
- obesity due to melanocortin 4 receptor deficiency
- laryngeal neuroendocrine neoplasm
- severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- acquired central diabetes insipidus
