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 C7orf42 gene product has been provisionally designated C7orf42 pending further characterization.
Synonyms: C7orf42, TM248_HUMAN, Chromosome 7 open reading frame 42, FLJ10099, FLJ13090, Hypothetical protein LOC55069, UPF0458 protein C7orf42.