Table 5. Overview of potentially novel genes identified in human steroidogenesis.
Potential function has been summarized from data in the GeneCards database, www.genecards.org
Rank | Gene | Protein | OMIM gene |
Potential function |
---|---|---|---|---|
1 | MGARP (OSAP) |
Mitochondria localized glutamic acid rich protein |
- | Possible mitochondrial integrity and trafficking of mitochondria along microtubules |
2 | MAP3K15 (ASK3) |
Mitogen-activated protein kinase kinase kinase 15 |
300820 | Cell signalling of stress and apoptosis |
3 | HPGD | 15-hydroxyprostaglandin dehydrogenase |
601688 | Metabolism and degradation of prostaglandins and NAD-dependent dehydrogenation |
4 | C7 | Complement component 7 | 217070 | Cytolytic phase of complement activation forming part of the membrane attack complex |
5 | MT2A | Metallothionein 2A | 156360 | Possible regulation of oxidative stress and binding to metal ions |
6 | DLK1 (PREF1, FA1) |
Delta-like non-canonical notch ligand 1 |
176290 | Imprinted (paternally expressed) regulator of cell growth and differentiation |
7 | INHA | Inhibin alpha | 147380 | Alpha subunit of TGF-beta glycoprotein hormone involved in regulation of hormone secretion, cell growth and apoptosis. Variants implicated in paediatric adrenal cancer. |
8 | FOXO4 | Forkhead box O4 | 3000033 | Transcription factor involved in oxidative stress, growth and differentiation, and leukaemia |
9 | GRAMD1B | GRAM domain containing 1B | (612559) | Locus has susceptibility to chronic lymphocytic leukaemia |
10 | RMDN2 (FAM82A1) |
Regulator of microtubule dynamics 2 |
611872 | Microtubule association during cell division |
11 | SLC46A3 | Solute carrier family 46, member 3 |
616764 | Membrane transport of small molecules |
12 | SLC16A9 | Solute carrier family 16, member 9 |
614242 | Monocarboxylic acid transporter across plasma membranes |
13 | COL15A1 | Collagen type XV, alpha-1 | 120325 | Structural component of muscle and vessels, possible precursor of restin (antiangiogenic) |
14 | AVPI1 | Arginine vasopressin induced 1 | - | May be involved in MAP kinase activation and cell cycling |
15 | FRRS1 | Ferric chelate reductase 1 | 611578 | Reduces ferric to ferrous iron before its transport from the endosome to cytoplasm |
16 | VCAM1 | Vascular cell adhesion molecule 1 |
192225 | Glycoprotein expressed in endothelial cells, interacts with integrins on leukocytes to mediate adhesion and signal transduction |
17 | FLJ38894 | - | - |