rs776758619
This variant is located in the NUBPL gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout NUBPL
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]
View all NUBPL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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