AHDC1 Gene (AT-Hook DNA Binding Motif Containing 1)
AHDC1: Gene associated with Xia-Gibbs syndrome and neurodevelopmental disorders
Gene Information Card
| Symbol | AHDC1 |
|---|---|
| Full Name | AT-Hook DNA Binding Motif Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 27245 ncbi.nlm.nih.gov/gene/27245 |
| Ensembl ID | ENSG00000187514 |
| UniProt ID | Q5TGY3 |
| OMIM ID | 615790 |
| HGNC ID | 25230 |
| Aliases | gazelle, FLJ20084, MGC131851 |
Description
The AHDC1 gene encodes a protein containing AT-hook DNA binding motifs, which are involved in chromatin remodeling and transcriptional regulation. Mutations in AHDC1 are primarily associated with Xia-Gibbs syndrome (MIM #615829), a neurodevelopmental disorder characterized by intellectual disability, hypotonia, obstructive sleep apnea, and dysmorphic features. The gene is expressed in multiple tissues, including the brain, and plays a role in neural development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Xia-Gibbs syndrome | Loss-of-function mutations in AHDC1 lead to haploinsufficiency, disrupting AT-hook mediated DNA binding and transcriptional regulation during neurodevelopment. | ClinVar, OMIM |
| Intellectual disability | Pathogenic variants in AHDC1 are associated with global developmental delay and intellectual disability. | ClinVar |
| Obstructive sleep apnea | Common feature in Xia-Gibbs syndrome, likely due to hypotonia and craniofacial abnormalities. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| SH-SY5Y | 14.1 | Neuroblastoma cells |
| HeLa | 9.5 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1465C>T (p.Arg489*) | Nonsense | Rare | Loss of function, premature truncation |
| c.2083C>T (p.Arg695*) | Nonsense | Rare | Loss of function, premature truncation |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Likely loss of function, altered DNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to haploinsufficiency are the primary mechanism in Xia-Gibbs syndrome.
Gain of Function (GOF)
No evidence of gain-of-function mutations in AHDC1.
Dominant Negative (DN)
Not reported; dominant negative effects are unlikely given the haploinsufficiency mechanism.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • chromatin binding |
| • regulation of transcription | • DNA-templated |
| • nucleus |
Pathways
• Chromatin organization
• Transcriptional regulation by AT-hook proteins
Protein Summary
The AHDC1 protein contains AT-hook motifs that mediate binding to AT-rich DNA regions, facilitating chromatin remodeling and gene expression regulation. It is predominantly nuclear and expressed in developing neural tissues. Loss of function leads to Xia-Gibbs syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AHDC1 Knockout HEK293 Cell Line | EDJ-KQ8725 | Human | 27245 | Details Get a Quote |
| AHDC1 Knockout A-549 Cell Line | EDJ-KQ34965 | Human | 27245 | Details Get a Quote |
| AHDC1 Knockout HCT 116 Cell Line | EDJ-KQ34966 | Human | 27245 | Details Get a Quote |
| AHDC1 Knockout HeLa Cell Line | EDJ-KQ34967 | Human | 27245 | Details Get a Quote |
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