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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AMDHD1
amidohydrolase domain containing 1
Chromosome 12 · 12q23.1
NCBI Gene: 144193Ensembl: ENSG00000139344.9HGNC: HGNC:28577UniProt: B3KVC5
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingimidazolonepropionase activityL-histidine catabolic processcytosolcholangiocarcinomaadolescent idiopathic scoliosisOkt4 epitope deficiencytransient myeloproliferative syndrome
✦AI Summary

AMDHD1 (amidohydrolase domain containing 1) is a cytosolic hydrolase enzyme involved in the imidazolonepropionase activity and L-histidine catabolic pathway 1. Beyond its enzymatic function, AMDHD1 serves as a tumor suppressor in cholangiocarcinoma, where downregulation correlates with adverse clinicopathological features and poor prognosis 2. Mechanistically, AMDHD1 inhibits ubiquitination and degradation of SMAD4, enhancing TGF-β signaling to suppress cholangiocarcinoma cell proliferation and migration 2. AMDHD1 is also a recognized genetic determinant of circulating vitamin D levels, with genome-wide association studies identifying the rs10745742 variant as significantly associated with 25-hydroxyvitamin D concentrations 34. In nonalcoholic fatty liver disease, AMDHD1 expression is significantly decreased in nonalcoholic steatohepatitis patients compared to healthy controls, identifying it as a metabolic biomarker 5. Additionally, AMDHD1 expression is associated with pulmonary embolism risk through vitamin D metabolism pathways 6, and its expression is dynamically regulated during orthodontic compressive strain in periodontal ligament fibroblasts 7. During Xenopus metamorphosis, AMDHD1 is directly activated by thyroid hormone and expressed specifically in proliferating adult intestinal epithelial stem cells, suggesting a developmental role 1.

Sources cited
1
AMDHD1 acts as a tumor suppressor in cholangiocarcinoma, inhibits G1/S progression and apoptosis, and operates through TGF-β signaling by preventing SMAD4 ubiquitination
PMID: 39143229
2
Genome-wide association study identified AMDHD1 rs10745742 variant as significantly associated with serum 25-hydroxyvitamin D concentrations at genome-wide significance
PMID: 29343764
3
AMDHD1 is among genes discovered through GWAS to be associated with serum vitamin D levels
PMID: 30316967
4
AMDHD1 expression is significantly decreased in nonalcoholic steatohepatitis patients compared to healthy controls and is identified as a metabolism-related biomarker for NAFLD
PMID: 37697333
5
AMDHD1 expression is associated with pulmonary embolism risk through vitamin D metabolism-mediated mechanisms
PMID: 37414665
6
AMDHD1 gene expression is differentially regulated during simulated orthodontic compressive strain in human periodontal ligament fibroblasts
PMID: 34362362
7
AMDHD1 is directly activated by thyroid hormone and encodes a histidine catabolic enzyme specifically expressed in proliferating adult intestinal epithelial stem cells during metamorphosis
PMID: 26086244
Disease Associationsⓘ20
cholangiocarcinomaOpen Targets
0.07Suggestive
adolescent idiopathic scoliosisOpen Targets
0.06Suggestive
Okt4 epitope deficiencyOpen Targets
0.06Suggestive
transient myeloproliferative syndromeOpen Targets
0.05Suggestive
neutrophil immunodeficiency syndromeOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
Acute hepatic failureOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.03Suggestive
heart diseaseOpen Targets
0.03Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.02Suggestive
peripheral vascular diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
IGA glomerulonephritisOpen Targets
0.01Suggestive
Duchenne muscular dystrophyOpen Targets
0.01Suggestive
pancreatic adenocarcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CARNS1Shared pathway100%CARNMT1Shared pathway100%PNPProtein interaction99%UROC1Protein interaction98%FTCDProtein interaction97%MTAPProtein interaction81%
Tissue Expression6 tissues
Liver
100%
Lung
1%
Brain
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AMDHD1CARNS1CARNMT1PNPUROC1FTCDMTAP
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96NU7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.38LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.80–1.38]
RankingsWhere AMDHD1 stands among ~20K protein-coding genes
  • #16,089of 20,598
    Most Researched13
  • #14,382of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedAMDHD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
AMDHD1 acts as a tumor suppressor and contributes to activation of TGF-β signaling pathway in cholangiocarcinoma.
PMID: 39143229
Cell Death Differ · 2025
1.00
2
The genetics of vitamin D.
PMID: 30316967
Bone · 2019
0.90
3
Identification of metabolic biomarkers associated with nonalcoholic fatty liver disease.
PMID: 37697333
Lipids Health Dis · 2023
0.80
4
Causality assessment of circulating Vitamin D level on venous thromboembolism: A Mendelian randomization study.
PMID: 37414665
Nutr Metab Cardiovasc Dis · 2023
0.70
5
The role of 25-hydroxyvitamin-D3 and vitamin D receptor gene in human periodontal ligament fibroblasts as response to orthodontic compressive strain: an in vitro study.
PMID: 34362362
BMC Oral Health · 2021
0.60