Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 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.
Similarity:
Contains 2 IQ domains.
SWISS:
Q6IPM2
Gene ID:
23288
Database links:
Entrez Gene: 23288 Human
Entrez Gene: 74239 Mouse
Entrez Gene: 304318 Rat
SwissProt: Q6IPM2 Human
SwissProt: Q6PCQ0 Mouse
Unigene: 520627 Human
Unigene: 179704 Mouse
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