Catalyzes the hydrolysis of S-adenosyl-L-homocysteine to form adenosine and homocysteine (PubMed:10933798). Binds copper ions (By similarity)
Homotetramer (PubMed:19177456, PubMed:28647132, PubMed:9586999). Interaction with AHCYL1 (PubMed:28647132)
A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy.
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Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to AHCY, aggregated across our SSL data sources. Click any partner node to view that gene’s page.
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Total Trials Found: 1
| NCT ID | Condition | Brief Title | Phase | Status |
|---|---|---|---|---|
| NCT03333200 | MLD, Krabbe Disease, ALD, MPS I, MPS II, MPS III, Vanishing White Matter Disease, GM3 Gangliosidosis, PKAN, Tay-Sachs Disease, NP Deficiency, Osteopetrosis, Alpha-Mannosidosis, Sandhoff Disease, Niemann-Pick Diseases, MPS IV, Gaucher Disease, GAN, GM1 Gangliosidoses, Morquio Disease, S-Adenosylhomocysteine Hydrolase Deficiency, Batten Disease, Pelizaeus-Merzbacher Disease, Leukodystrophy, Lysosomal Storage Diseases, Purine Nucleoside Phosphorylase Deficiency, Multiple Sulfatase Deficiency Disease | Longitudinal Study of Neurodegenerative Disorders | N/A | RECRUITING |
| NCT05687474 | Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young, Cystic Fibrosis, Hypophosphatasia, Infantile, Congenital Hypothyroidism, Deficit in Anterior Pituitary Function and Variable Immunodeficiency, Pituitary Hormone Deficiency, Combined, Diamond Blackfan Anemia, Wiskott-Aldrich Syndrome, Fanconi Anemia, Hemophilia A, Hemophilia B, Glucose 6 Phosphate Dehydrogenase Deficiency, Alpha-Thalassemia, Sickle Cell Disease, Shwachman-Diamond Syndrome, Alpha 1-Antitrypsin Deficiency, Inflammatory Bowel Disease 25, Autosomal Recessive, Wilson Disease, Progressive Familial Intrahepatic Cholestasis, Crigler-Najjar Syndrome, Familial Chylomicronemia, Lysosomal Acid Lipase Deficiency, Familial Hemophagocytic Lymphocytosis, Griscelli Syndrome, Chediak-Higashi Syndrome, Severe Congenital Neutropenia, Severe Combined Immune Deficiency, Chronic Granulomatous Disease, Menkes Disease, Adrenoleukodystrophy, Smith-Lemli-Opitz Syndrome, Ataxia With Vitamin E Deficiency, Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type), Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type), Thiamine-Responsive Megaloblastic Anemia, Thiamine Metabolism Dysfunction Syndrome 2, Deficiency of GOT2, Cerebral Folate Transport Deficiency, Segawa Syndrome, Autosomal Recessive, Congenital Myasthenic Syndrome, Metachromatic Leukodystrophy, Sepiapterin Reductase Deficiency, Dopamine Beta Hydroxylase Deficiency, Glut1 Deficiency Syndrome, Late-Infantile Neuronal Ceroid Lipofuscinosis, Aromatic L-amino Acid Decarboxylase Deficiency, Charcot-Marie-Tooth Disease, Type 6C, Hereditary Hyperekplexia, Brain Dopamine-Serotonin Vesicular Transport Disease, Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency, Tyrosinemia, Type I, Disaccharide Intolerance I, Beta Ketothiolase Deficiency, Phosphoglycerate Dehydrogenase Deficiency, Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency, Pyridoxine-5'-Phosphate Oxidase Deficiency, Pyridoxine-Dependent Epilepsy, Propionic Acidemia, Pompe Disease, Phenylalanine Hydroxylase Deficiency, Ornithine Transcarbamylase Deficiency, N Acetyl Glutamate Synthetase Deficiency, Riboflavin Deficiency, Maple Syrup Urine Disease, Medium Chain Acyl CoA Dehydrogenase Deficiency, Malonic Acidemia, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, Phosphoserine Aminotransferase Deficiency, Phosphoserine Phosphatase Deficiency, Hyperornithinemia-Hyperammonemia-Homocitrullinuria, S-Adenosylhomocysteine Hydrolase Deficiency, Mucopolysaccharidosis VII, Mucopolysaccharidosis VI, Mucopolysaccharidosis IV A, Mucopolysaccharidosis II, Mucopolysaccharidosis I, Transcobalamin Deficiency, Isolated Methylmalonic Acidemia, Cobalamin Deficiency, Homocystinuria, Holocarboxylase Synthetase Deficiency, Fanconi Bickel Syndrome, Glycogen Storage Disease, Glycine Encephalopathy, Glutaric Acidemia I, Glucose Galactose Malabsorption, Gaucher Disease, Type 1, Galactosemias, Fructosemia, Fructose-1,6-Diphosphatase Deficiency, Carbamoyl Phosphate Synthase 1 Deficiency, Citrullinemia Type II, Citrullinemia 1, Creatine Deficiency Syndrome, Systemic Primary Carnitine Deficiency, Carnitine Palmitoyltransferase Deficiency 2, Carnitine Palmitoyltransferase Deficiency 1, Carnitine Acylcarnitine Translocase Deficiency, Riboflavin Transporter Deficiency, Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency, Andersen Tawil Syndrome, Timothy Syndrome, Jervell-Lange Nielsen Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Familial Hypertrophic Cardiomyopathy Type 4, Pseudohypoaldosteronism, Type II, Pseudohypoaldosteronism Type 1, Primary Hyperoxaluria, X Linked Hypophosphatemia, Hereditary Nephrogenic Diabetes Insipidus, Cystinosis, Congenital Nephrotic Syndrome, Finnish Type, Alport Syndrome, Hereditary Retinoblastoma, Biotinidase Deficiency, Aciduria, Argininosuccinic, Argininemia, Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of, 3-Hydroxy 3-Methyl Glutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | Baby Detect : Genomic Newborn Screening | N/A | COMPLETED |