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. |
2. |
NCBI article NCBI 255758 |
3. |
OMIM.ORG article Omim 617353 |