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Rabbit Anti-NDUFAF1 antibody
This gene encodes 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. [provided by RefSeq, Dec 2011]
Function:
Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).
Subunit:
Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, CIA30, ECSIT, and ACAD9
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Ubiquitous.
Similarity:
Belongs to the CIA30 family.
SWISS:
Q9Y375
Gene ID:
51103
Database links:
Entrez Gene: 51103 Human
Entrez Gene: 69702 Mouse
Entrez Gene: 296086 Rat
Omim: 606934 Human
SwissProt: Q9Y375 Human
SwissProt: Q9CWX2 Mouse
Unigene: 106529 Human
Unigene: 5390 Mouse
Unigene: 49587 Rat
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