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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.

external link
2.

NCBI article

NCBI 255758 external link
3.

OMIM.ORG article

Omim 617353 external link
Update: Aug. 14, 2020
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