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.
Schmidts M et al. (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
NCBI 255758 [^]
Omim 617353 [^]
Update: April 29, 2019