AHDC1
Function
Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter chromatin architecture (PubMed:35585237). Interacts with many sequence-specific zinc-finger transcription factors and methyl-CpG-binding proteins to regulate the expression of mesoderm genes that wire surface ectoderm stratification (PubMed:35585237).
Involvement in disease
Xia-Gibbs syndrome
XIGIS
An autosomal dominant disorder characterized by intellectual disability, mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
- Chromosome
- Associates with promoter and enhancer regions.
Alternative names
Transcription factor Gibbin, AT-hook DNA-binding motif-containing protein 1, AHDC1