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 C7orf64 gene product has been provisionally designated C7orf64 pending further characterization.
Similarity:
Belongs to the RBM48 family.
Contains 1 RRM (RNA recognition motif) domain.
SWISS:
Q5RL73
Gene ID:
16860
Database links:
Entrez Gene: 16860 Human
Entrez Gene: Q8K2X2 Mouse
SwissProt: Q5RL73 Human
SwissProt: Q561R3 Rat
Unigene: 21590 Human
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Sample:MCF-7 Cell (Human) Lysate at 40 ug
Primary: Anti-C7orf64(SL15279R)at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 42kD
Observed band size: 42kD
Sample:A431 Cell (Human) Lysate at 40 ug
Primary: Anti-C7orf64(SL15279R)at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 42kD
Observed band size: 42kD
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