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NUBPL encodes a member of the Mrp/NBP35 ATP-binding proteins family. Additionally we are shipping NUBPL Antibodies (45) and many more products for this protein.
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Our data show that NUBPL mutations are associated with a unique, consistent, and recognizable MRI (show C7ORF49 Proteins) pattern.
Mutations in NUBPL is associated with complex I deficiency.
These data identify huInd1 as a new assembly factor for human respiratory complex I with a possible role in the delivery of one or more Fe/S clusters to complex I subunits.[Ind1]
This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. The respiratory complex I consists of 45 subunits and 8 iron-sulfur (Fe/S) clusters. This protein is an Fe/S protein that plays a critical role in the assembly of respiratory complex I, likely by transferring Fe/S into the Fe/S-containing complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding distinct isoforms have been identified.
, iron-sulfur protein NUBPL
, iron-sulfur protein required for NADH dehydrogenase
, nucleotide-binding protein-like