The product binds to various nuclear receptors, such as the vitamin D receptor, so it might be involved in diseases with impaired receptor function but without an alteration of the receptor itself. There is not yet known a disease associated with mutations of this gene.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |