DDX46 DEAD-box helicase 46
Gene ID: 9879, updated on 14-Nov-2024Gene type: protein coding
Also known as: Prp5; PRPF5
- See all available tests in GTR for this gene
- Go to complete Gene record for DDX46
- Go to Variation Viewer for DDX46 variants
Summary
This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available |
Genomic context
- Location:
- 5q31.1
- Sequence:
- Chromosome: 5; NC_000005.10 (134758779..134831121)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DDX46 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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