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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. The C7orf45 gene product has been provisionally designated C7orf45 pending further characterization.
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Protein Aliases: Serine-rich single-pass membrane protein 1
Gene Aliases: C7orf45; SSMEM1
UniProt ID: (Human) Q8WWF3
Entrez Gene ID: (Human) 136263
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