Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Cherubism
SH3BP2

References:

1.

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.

external link
2.

Ueki Y et al. (2001) Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.

external link
3.

Lo B et al. (2003) Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.

external link
4.

Ueki Y et al. (2007) Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice.

external link
5.
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits