Entity Details
Primary name |
NAKD2_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q4G0N4 |
EntryName | NAKD2_HUMAN |
FullName | NAD kinase 2, mitochondrial |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 442 |
SequenceStatus | complete |
DateCreated | 2007-07-24 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Mitochondrion |
Domains
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Domain | Name | Category | Type |
IPR002504 | NAD kinase | Family | Family |
IPR012355 | NAD kinase 2, mitochondrial | Family | Family |
IPR016064 | NAD kinase/diacylglycerol kinase-like domain superfamily | Family | Homologous superfamily |
IPR017437 | ATP-NAD kinase, PpnK-type, C-terminal | Family | Homologous superfamily |
IPR017438 | Inorganic polyphosphate/ATP-NAD kinase, N-terminal | Family | Homologous superfamily |
Diseases
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Disease ID | Source | Name | Description |
616034 | OMIM | 2,4-dienoyl-CoA reductase deficiency (DECRD) | A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
Interactor | Partner | Sources | Publications | Link |