Target intelligence / Profile preview

NUBP iron-sulfur cluster assembly factor, mitochondrial (NUBPL)

Target
NUBPL
Molecular classification
Iron-sulfur cluster assembly factor, Enzyme cofactor assembly protein, P-loop NTPase family, Other
01

Overview

NUBP iron-sulfur cluster assembly factor, mitochondrial (NUBPL), is an essential protein involved in the transfer of iron-sulfur (Fe-S) clusters to subunits of mitochondrial Complex I (NADH:ubiquinone oxidoreductase) during its assembly. It acts as a dedicated Fe-S cluster maturation factor, delivering [4Fe-4S] clusters to specific subunits of Complex I, and is classified as a P-loop NTPase. Mutations in the NUBPL gene are associated with mitochondrial complex I deficiency, causing a range of mitochondrial disorders that predominantly involve neurological dysfunction and multisystem disease. NUBPL is not a classic therapeutic target such as a receptor or enzyme, but is clinically significant due to its role in inherited mitochondrial diseases.

Other names
Iron-sulfur cluster transfer protein NUBPLIND1IND1 homologC14orf127FLJ12660MC1DN21huInd1nucleotide-binding protein-likeiron-sulfur protein required for NADH dehydrogenase
02

Biological functions

Iron-sulfur cluster transferAssembly of mitochondrial Complex I (NADH:ubiquinone oxidoreductase)Mitochondrial respiratory chain biogenesisOther
03

Disease associations

Mitochondrial diseaseNeurodegenerative diseaseMitochondrial complex I deficiencyOther
04

Safety considerations

Mitochondrial dysfunction due to deficiency or mutationPotential for multisystem disease in affected patients
05

Biomarkers

NUBPL mutations as biomarker for mitochondrial complex I deficiency

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