Catalyzes the reversible stereospecific interconversion of fumarate to L-malate (PubMed:30761759). Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable)
Homotetramer (PubMed:21445611, PubMed:30761759). Interacts with H2AZ1 (PubMed:26237645)
Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology
A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy.
A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.
Click a pathway to open the interactive Reactome viewer.
Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to MFHAS1, aggregated across our SSL data sources. Click any partner node to view that gene’s page.
Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.
Total Trials Found: 1
| NCT ID | Condition | Brief Title | Phase | Status |
|---|---|---|---|---|
| NCT05284513 | Familial Hypercholesterolemia | Collaborative Approach to Reach Everyone With Familial Hypercholesterolemia (CARE-FH) | NA | ENROLLING_BY_INVITATION |
| NCT00475826 | Heterozigous Familial Hypercholesterolemia | Evaluation of Chylomicrons Metabolism in Sub-Clinical Atherosclerosis in Patients Whit Heterozigous Familial Hypercholesterolemia (FH) Treated With Statin Plus Ezetimibe | NA | UNKNOWN |
| NCT01536080 | Reflux Esophagitis (RE), Non-erosive Reflux Disease (NERD), Functional Heartburn (FH) | Analysis of GERD Symptoms Using Gastroesophageal Reflux Impact Score Questionnaire for Quality of Life | N/A | COMPLETED |
| NCT06461702 | Familial Hypercholesterolemia | Clinical Exploration Trial of YOLT-101 in the Treatment of Familial Hypercholesterolemia (FH) | EARLY_PHASE1 | UNKNOWN |
| NCT01797939 | Erosive Reflux Disease, Non-erosive Reflux Disease, Functional Heartburn | Predictors of Proton Pump Inhibitor Response in Gastroesophageal Reflux Disease Patients | N/A | COMPLETED |
| NCT06043713 | Metastatic Malignant Solid Neoplasm | Autologous CD8+ and CD4+ Transgenic T Cells Expressing High Affinity KRASG12V Mutation-Specific T Cell Receptors (FH-A11KRASG12V-TCR) in Treating Patients With Metastatic Solid Tumor Cancers With KRAS G12V Mutations | PHASE1 | RECRUITING |
| NCT05043181 | Familial Hypercholesterolemia | Exosome-based Nanoplatform for Ldlr mRNA Delivery in FH | PHASE1 | NOT_YET_RECRUITING |
| NCT05238519 | Familial Hypercholesterolemia, Cholesterol, Elevated, Genetic Disease | Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH) | PHASE3 | ACTIVE_NOT_RECRUITING |
| NCT07427472 | Heterozygous Familial Hypercholesterolemia (HeFH) | "Detection and Follow-up of Coronary Lesions in HeFH (DESTINY-FH Study)" | NA | NOT_YET_RECRUITING |
| NCT04941599 | Familial Hypercholesterolemia | 2-Hydroxybenzylamine (2-HOBA) to Reduce HDL Modification and Improve HDL Function in Familial Hypercholesterolemia (FH) | PHASE2 | RECRUITING |