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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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NDUFAF1 / CIA30
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF1 / CIA30 is a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19.
| Gene Name: | NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 |
| Synonyms: | NDUFAF1, CGI65, CGI-65, CIA30 |
| Target Sequences: | NM_016013 NP_057097.2 Q9Y375 |
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