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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: family with sequence similarity 221, member A; Protein FAM221A; uncharacterized protein C7orf46
Gene Aliases: C7orf46; FAM221A
UniProt ID: (Human) A4D161
Entrez Gene ID: (Human) 340277
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