Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

TCTEX1 domain-containing protein 2

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.

Genetests:

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

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 17
TCTEX1D2

References:

1.

Schmidts M et. al. (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

[^]
Update: Sept. 26, 2018