DEAD-box helicase 41
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Cytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHaematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHaematological malignancies for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownInherited predisposition to acute myeloid leukaemia (AML)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDX41-related hematologic malignancy predisposition syndrome
acute myeloid leukemia
myelodysplastic syndrome
myelodysplastic syndrome with excess blasts
myeloid leukemia
hereditary disease
neurodegenerative disease
adult acute myeloid leukemia
chronic myelogenous leukemia, BCR-ABL1 positive
Kostmann syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Probable ATP-dependent RNA helicase DDX41
Multifunctional protein that participates in many aspects of cellular RNA metabolism. Plays pivotal roles in innate immune sensing and hematopoietic homeostasis (PubMed:34473945). Recognizes foreign or self-nucleic acids generated during microbial infection, thereby initiating anti-pathogen responses (PubMed:23222971). Mechanistically, phosphorylation by BTK allows binding to dsDNA leading to interaction with STING1 (PubMed:25704810). Modulates the homeostasis of dsDNA through its ATP-dependent DNA-unwinding activity and ATP-independent strand-annealing activity (PubMed:35613581). In turn, induces STING1-mediated type I interferon and cytokine responses to DNA and DNA viruses (PubMed:35613581). Selectively modulates the transcription of certain immunity-associated genes by regulating their alternative splicing (PubMed:33650667). Binds to RNA (R)-loops, structures consisting of DNA/RNA hybrids and a displaced strand of DNA that occur during transcription, and prevents their accumulation, thereby maintaining genome stability (PubMed:36229594). Also participates in pre-mRNA splicing, translational regulation and snoRNA processing, which is essential for ribosome biogenesis (PubMed:36229594, PubMed:36780110)
Curated MONDO disease pages that list DDX41 among their top associated genes.
DDX41 · Q9UJV9
Mean pLDDT
77.9/ 100
Confident
622 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
