NAD kinase 2, mitochondrial
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalprogressive encephalopathy with leukodystrophy due to DECR deficiency
neurodegenerative disease
Abnormality of the skeletal system
type 2 diabetes mellitus
multinodular goiter
hereditary disease
Bardet-Biedl syndrome 10
actinic keratosis
hepatocellular carcinoma
vitiligo
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
NAD kinase 2, mitochondrial
Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo
NADK2 · Q4G0N4
Mean pLDDT
83.1/ 100
Confident
442 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
