Description
Product Characteristics:
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 C7orf30 gene product has been provisionally designated C7orf30 pending further characterization.
Subcellular location: Cytoplasm
Synonyms: C7orf30, MASU1_HUMAN, Chromosome 7 open reading frame 30, Uncharacterized protein C7orf30.
Target Information: Participates in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome