Aliases for NUBPL Gene
External Ids for NUBPL Gene
Previous HGNC Symbols for NUBPL Gene
Previous GeneCards Identifiers for NUBPL Gene
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. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
GeneCards Summary for NUBPL Gene
NUBPL (Nucleotide Binding Protein Like) is a Protein Coding gene. Diseases associated with NUBPL include Mitochondrial Complex I Deficiency and Leber Hereditary Optic Neuropathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include 4 iron, 4 sulfur cluster binding. An important paralog of this gene is NUBP1.
UniProtKB/Swiss-Prot for NUBPL Gene
Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits.