AHDC1 : AT-hook DNA binding motif containing 1
Description
The AHDC1 (AT-hook DNA binding motif containing 1) is a protein-coding gene located on chromosome 1.
The AHDC1 gene provides instructions for making a protein whose function is not fully understood. This protein is found within the nucleus of cells and has a region that likely binds to DNA. Based on its location and potential DNA-binding capabilities, researchers believe that it may play a role in regulating the activity of other genes.
AHDC1 plays a crucial role in the development of the skin (epidermis). It acts as a transcription factor, directly binding to promoter and enhancer regions of genes involved in skin patterning. This binding helps maintain the correct structure of the chromatin, ensuring proper gene expression. AHDC1 also interacts with other transcription factors, including zinc-finger proteins and methyl-CpG-binding proteins, to control the expression of genes involved in the formation of the skin layers.
AHDC1 is also known as MRD25, XIGIS.
Associated Diseases
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Xia-Gibbs syndrome
