SH3 domain-binding protein 2
The SH3BP2 gene encodes a regulatory protein which by binding to an SH3 domain regululate phosphokinase and transcription funktion. Mutations cause autosomal dominant and recessive cherubism.
Genetests:
Related Diseases:
References:
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Bell SM et al. (1997) Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.
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Ueki Y et al. (2001) Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
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Lo B et al. (2003) Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.
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4. |
Ueki Y et al. (2007) Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice.
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Update: Aug. 14, 2020