Gene Symbol | NUBPL |
Entrez Gene ID | 80224 |
Full Name | nucleotide binding protein like |
Synonyms | C14orf127,IND1,huInd1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex I deficiency, 252010 (3) |