Table 2. Potential biological functions of genes up-regulated during early testis development.
Monogenic disorders associated with these factors are shown in italics. Potential function has been summarised from data in the GeneCards database.
| Gene | Protein | Potential function |
|---|---|---|
| ASPN | Asporin | Leucine-rich repeat (LRR) protein associated with the cartilage matrix |
| GSTA1 | Glutathione- S-transferase, alpha-1 | Enzyme involved in detoxification of cellular compounds by conjugation with reduced glutathione |
| CITED1 | CBP/p300-interacting transactivator with Glu/Asp-rich-C-terminal domain |
Transcriptional co-regulator |
| ANKRD18A | Ankyrin repeat domain-containing protein 18A |
Unknown |
| MOCOS | Molybdenum cofactor sulfurase | Enzyme involved in sulphuration of the molybdenum cofactor of xanthine dehydrogenase and aldehyde oxidase |
| HIST1H2AA | Histone gene cluster 1, H2A histone family, member A |
Replication-dependent histone |
| MAPK4 | Mitogen-activated protein kinase 4 | Regulator of cell signalling |
| NOSTRIN | Nitric oxide synthase trafficker | Protein that binds endothelial nitric oxide synthase (eNOS) and triggers translocation of ENOS from the plasma membrane to sub-cellular structures |
| G6PD | Glucose-6-phosphate dehydrogenase |
Enzyme involved in generation of NADPH in the hexose monophosphate pathway (associated with G6PD deficiency) |
| RASSF2 | RAS association domain family protein 2 |
Protein that interacts with RAS proteins in cell growth and mitogenesis |
| SLC52A3 | Solute carrier family 52, member 3 | Transmembrane protein that mediates cellular uptake of riboflavin (associated with Brown-Vialetto-van Laere syndrome type 1) |
| KEL | Kell blood group metalloendopeptidase |
Metalloendopeptidase that generates active endothelin-3 from big endothelin-3 |
| ZNF280B | Zinc finger protein 280B | Transcription factor that upregulates expression of MDM2 and negatively regulates p53 |
| PRPS2 | Phosphoribosylpyrophosphate synthetase 2 |
Enzyme involved in regulation of nucleotide production pathways |
| SOX9 | SRY-box 9 | Transcription factor involved in the regulation of testis development |
| INHBB | Inhibin beta B | Growth and differentiation factor involved in reproduction and development |