DDX59
Domain
The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.
Involvement in disease
Orofaciodigital syndrome 5
OFD5
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DEAD box helicase family. DDX59 subfamily.
Tissue Specificity
Expressed in fibroblasts (at protein level).
Cellular localization
- Cytoplasm
- Nucleus
- Exhibits granular localization in the nucleus, as well as in the cytoplasm.
Alternative names
ZNHIT5, DDX59, Probable ATP-dependent RNA helicase DDX59, DEAD box protein 59, Zinc finger HIT domain-containing protein 5