pyridine nucleotide-disulphide oxidoreductase domain 1
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Diagnostic Grade (Green)
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalCongenital myopathy
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalmyofibrillar myopathy 8
Muscle filaminopathy
muscular dystrophy
hereditary neoplastic syndrome
Inherited cancer-predisposing syndrome
hereditary disease
RECON progeroid syndrome
neurodegenerative disease
Hereditary breast and ovarian cancer syndrome
hereditary breast ovarian cancer syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1
Flavoprotein whose role is to protect RTCB, the catalytic subunit of the tRNA ligase complex (tRNA-LC) involved in tRNA splicing and unfolded protein response, from oxidative inactivation (PubMed:33930333). It directly binds and shields the catalytic center of RTCB, prior to guanylylation, when it is inactive and its active site is vulnerable to oxidation under aerobic conditions. The interaction of PYROXD1 with RTCB is allosterically regulated by NAD(P)H binding and reduction of its FAD cofactor, while reoxidation of PYROXD1 thanks to its NADPH dehydrogenase activity triggers the timed release of RTCB, enabling its subsequent activation. Thereby, this protective mechanism may also function as a molecular timer, regulating RTCB activation through controlled release (PubMed:40069351)
PYROXD1 · Q8WU10
Mean pLDDT
88.7/ 100
Confident
500 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
