DGKK diacylglycerol kinase kappa
Gene ID: 139189, updated on 28-Oct-2024Gene type: protein coding
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- Go to complete Gene record for DGKK
- Go to Variation Viewer for DGKK variants
Summary
The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]
Associated conditions
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| Description | Tests |
|---|---|
| Common variants in DGKK are strongly associated with risk of hypospadias. GeneReviews: Not available | |
| Genome-wide association analyses identify variants in developmental genes associated with hypospadias. GeneReviews: Not available |
Genomic context
- Location:
- Xp11.22
- Sequence:
- Chromosome: X; NC_000023.11 (50365409..50470825, complement)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DGKK 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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