Table 2.
General function of the 22 candidate genes analyzed by TLDA (TaqMan® Low Density Array) in cohort #2.
| Gene Name | Symbol | Function |
|---|---|---|
| Aconitase 1 | ACO1 | Essential enzyme in the TCA cycle and interacts with mRNA to control de levels of iron inside cells |
| Adrenomedullin | ADM | Vasodilation, regulation of hormone secretion, promotion of angiogenesis and antimicrobial activity |
| ATPase H+ transporting accessory protein 2 | ATP6AP2 | Associated with ATPases (fundamental roles in energy conservation, secondary active transport…) |
| Cytochrome C oxidase assembly factor 3 | COA3 | Localized to mitochondria and essential for cytochrome c oxidase function. Component of MITRAC |
| Cytochrome C oxidase copper chaperone 17 | COX17 | Copper metallochaperone essential for the assembly of the mitochondrial respiratory chain complex IV (cytochrome c oxidase) |
| C-X-C motif chemokine ligand 8 | CXCL8 | Member of C-X-C chemokine family and is a major mediator of the inflammation response |
| Endothelin-converting enzyme 1 | ECE1 | Proteolytic processing of endothelin precursors to biologically active peptides |
| Mitochondrial Ferritin | FTMT | Stores iron in a soluble, non-toxic, readily available form (ferric iron binding) and ferroxidase activity |
| Hydroxyacyl-coA dehydrogenase trifunctional multienzyme complex subunit alpha | HADHA | Subunit of the mitochondrial protein which catalyzes the last 3 steps of mitochondrial beta-oxidation of long chain fatty acids |
| Hypoxia inducible domain family member 1A | HIGD1A | Subunit of cytochrome c oxidase, may play a role in the assembly of respiratory super complexes in mitochondria |
| Hemopexin | HPX | Plasma glycoprotein that binds heme with high affinity and may be involved in protecting cells from oxidative stress |
| Lipocalin-2 | LCN2 | Iron-trafficking protein involved in multiple processes (apoptosis, innate immunity and renal development) |
| DNA Ligase 3 | LIG3 | Member of the DNA ligase family, involved in excision repair and is in mitochondria and nucleus |
| Mitochondrial calcium uniporter regulator 1 | MCUR1 | Key regulator of MCU (Mitochondrial calcium uniporter) required for calcium entry into mitochondria |
| Metallothionein 2A | MT2A | Member of the metallothionein family, act as anti-oxidant, important in homeostatic control of metal in cell |
| Myosin heavy chain 7B | MYH7B | Encodes a heavy chain of myosin II, involved in muscle contraction |
| Sirtuin 7 | SIRT7 | NAD-dependent protein-lysine deacylase; functions of huma sirtuins have not yet been well determined |
| Small integral membrane protein 20 | SMIM20 | Component of MITRAC complex, that regulates cytochrome c oxidase assembly in mitochondria |
| STEAP3 metalloreductase | STEAP3 | Multipass membrane protein that functions as an iron transporter |
| Transferrin Receptor | TFRC | Cell surface receptor necessary for cellular iron uptake by receptor-mediated endocytosis |
| ATP-dependent Zinc metalloprotease | YME1L1 | ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins in mitochondria |
| Zinc finger protein 260 | ZNF260 | Transcription factor that acts as a cardiac regulator and an effector of alpha1-adrenergic signaling |