The protein, TBC1 domain family member 8B, encoded by the TBC1D8B gene plays an important role in intracellular recycling processes. Mutations cause x-linked nephrotic syndrome type 20.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Research | Method | Genomic sequencing of the entire coding region |
Turnaround | 25 days | |
Specimen type | genomic DNA |
1. |
Dorval G et al. (2019) TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. |