DDX3Y DEAD-box helicase 3 Y-linked
Gene ID: 8653, updated on 14-Nov-2024Gene type: protein coding
Also known as: DBY
- See all available tests in GTR for this gene
- Go to complete Gene record for DDX3Y
- Go to Variation Viewer for DDX3Y variants
Summary
The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Spermatogenic failure, Y-linked, 2 | not available |
Genomic context
- Location:
- Yq11.221
- Sequence:
- Chromosome: Y; NC_000024.10 (12903999..12920478)
- Total number of exons:
- 16
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for DDX3Y variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DDX3Y database
- 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
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