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PTPN11 Gene Mutation Overview by Adrienne Rica Abella is a document available to read on EtoBox.
What is PTPN11 Gene Mutation Overview about?
Noonan syndrome is an autosomal dominant genetic condition caused by a mutation in the PTPN11 gene on chromosome 12 that codes for the SHP-2 protein. This mutation causes the SHP-2 protein to gain function, resulting in abnormal intracellular signaling and developmental issues. Common mutations involved are an A to G change at nucleotide 922 causing an Asn308Asp substitution and a C to T change at nucleotide 218 causing a Thr73Ile substitution.
- Author
- Adrienne Rica Abella
- Language
- EN