DISEASES

Disease-gene associations mined from literature

Literature associating DDX4 and epithelial-stromal TGFBI dystrophy

DDX4 [ENSP00000424838]

DEAD (Asp-Glu-Ala-Asp) box polypeptide 4; ATP-dependent RNA helicase required during spermatogenesis. Required to repress transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Involved in the secondary piRNAs metabolic process, the production of piRNAs in fetal male germ cells through a ping- pong amplification cycle (By similarity). Required for PIWIL2 slicing-triggered piRNA biogenesis: helicase activity enables utilization of one of the slice cleavage fragments generated by PIWIL2 and processing these pre-piRNAs into piRNAs (By similarity); Belongs to the DEAD box helicase family. DDX4/VASA subfamily.

Synonyms:  DDX4,  DDX4p,  hDDX4,  D6RAF5,  D6RAT7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM