AHDC1

Chr 1p36.11-p35.3

AT-hook DNA binding motif containing 1

Aliases:: DJ159A19.3, RP1-159A19.1
MANE:: ENST00000673934.1

OMIM: 615790 ↗NCBI: 27245 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

AHDC1 · Q5TGY3

v62025-08-01

Predicted Aligned Error matrix for AHDC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

38.6/ 100

Very low

1,603 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)3%
Low(50–70)6%
Very low(< 50)91%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar hypoplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
0.83
Intellectual disability
0.71
hereditary disease
0.53
Sleep apnea
0.51
Delayed speech and language development
0.51
Hypotonia
0.46
Global developmental delay
0.46
Neurodevelopmental abnormality
0.45
Neonatal hypotonia
0.45
Neurodevelopmental delay
0.41

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor Gibbin

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)