NADK2 NAD kinase 2, mitochondrial
Gene ID: 133686, updated on 2-Nov-2024Gene type: protein coding
Also known as: DECRD; MNADK; NADKD1; C5orf33
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- Go to complete Gene record for NADK2
- Go to Variation Viewer for NADK2 variants
Summary
This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | not available |
Genomic context
- Location:
- 5p13.2
- Sequence:
- Chromosome: 5; NC_000005.10 (36192589..36242279, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NADK2 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
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