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Rabbit Anti-C7orf44 antibody
Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf44 gene product has been provisionally designated C7orf44 pending further characterization.
Function:
Component of some MITRAC complex, a cytochrome c oxidase (COX) assembly intermediate complex that regulates COX assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for assembly of mitochondrial respiratory chain complex I and complex IV.
Subunit:
Interacts with COX17 and COA6. Component of some MITRAC complex.
Subcellular Location:
Mitochondrion inner membrane; Single-pass membrane protein.
Similarity:
Belongs to the COA1 family.
SWISS:
Q9GZY4
Gene ID:
55744
Database links:
Entrez Gene: 55744 Human
SwissProt: Q9GZY4 Human
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