background:
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. The C7orf28 gene product has been provisionally designated C7orf28 pending further characterization.
Subcellular Location:
Lysosome membrane.
Similarity:
Belongs to the CCZ1 family.
Database links:
Entrez Gene: 51622 Human
Entrez Gene: 511088 Cow
Entrez Gene: 231874 Mouse
Entrez Gene: 72768 Rat
SwissProt: Q0VD30 Cow
SwissProt: P86791 Human
SwissProt: Q8C1Y8 Mouse
Unigene: 530000 Human
Unigene: 64432 Mouse
Unigene: 137253 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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