Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The TCTEX1D2 gene encodes an ATPase that is responsible for energy supply in microtubuli. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 17.
| 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. |
Schmidts M et al. (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. 
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| 2. |
NCBI article NCBI 255758
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| 3. |
OMIM.ORG article Omim 617353
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