| Modification Notes |
PTCD1 (pentatricopeptide repeat domain 1) is a 700 amino acid protein that contains nine PPR (pentatricopeptide) repeats and is encoded by a gene that maps to human chromosome 7q22.1. Chromosome 7 houses over 1,000 genes and comprises nearly 5% of the human genome. 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. |