DDX59 DEAD-box helicase 59
Gene ID: 83479, updated on 4-Jan-2025Gene type: protein coding
Also known as: OFD5; ZNHIT5
- See all available tests in GTR for this gene
- Go to complete Gene record for DDX59
- Go to Variation Viewer for DDX59 variants
Summary
Predicted to enable RNA helicase activity and mRNA binding activity. Predicted to be involved in chromatin looping and chromatin remodeling. Predicted to be located in cytoplasm; membrane; and nucleus. Implicated in orofaciodigital syndrome V. [provided by Alliance of Genome Resources, Jan 2025]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Orofaciodigital syndrome V | See labs |
Genomic context
- Location:
- 1q32.1
- Sequence:
- Chromosome: 1; NC_000001.11 (200640805..200669907, complement)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for DDX59 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.