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 C7orf26 gene product has been provisionally designated C7orf26 pending further characterization.
SWISS:
Q96N11
Gene ID:
79034
Database links:
Entrez Gene: 79034 Human
Entrez Gene: 231868 Mouse
SwissProt: Q96N11 Human
SwissProt: Q8BGA7 Mouse
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