AHDC1 Gene Summary [Human]
This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
Details
| Type | Protein Coding |
| Official Symbol | AHDC1 |
| Official Name | AT-hook DNA binding motif containing 1 [Source:HGNC Symbol;Acc:HGNC:25230] |
| Ensembl ID | ENSG00000126705 |
| Bio databases IDs | |
| Aliases | AT-hook DNA binding motif containing 1 |
| Synonyms | AT hook, DNA binding motif, containing 1, AT-hook DNA binding motif containing 1, D030015G18RIK, MRD25, RGD1310031, XIGIS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AHDC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- double-stranded DNA binding
- chromatin binding
- protein binding
- transcription factor activity
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- Xia-Gibbs syndrome
- neurodevelopmental disorder
- myocardial infarction
- mental retardation
- abdominal obesity-metabolic syndrome 3
- cerebellar hypoplasia or atrophy, epilepsy, and global developmental delay
- coronary artery disease
- cortical visual impairment and intellectual disability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AHDC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell differentiation
- regulation of transcription, DNA-dependent
- mesoderm formation
- skin morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromosome
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding