Analysis of PTEN Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2056-LGZ)

Introduction

Official Full Name: phosphatase and tensin homolog<br />Also known as: BZS; DEC; CWS1; GLM2; MHAM; TEP1; MMAC1; PTEN1; 10q23del; PTENbeta<br />This gene, identified as a tumor suppressor, is mutated at high frequency in a large number of cancers. The protein encoded by this gene is phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin-like domain and a catalytic domain similar to a dual-specificity protein tyrosine phosphatase. Unlike most tyrosine protein phosphatases, this protein preferentially dephosphorylates the phosphocarnosine substrate. It negatively regulates the level of intracellular phosphatidylinositol-3,4,5-triphosphate and exerts tumor suppressor effect by negatively regulating the AKT/PKB signaling pathway. Use of a non-canonical (CUG) upstream initiation site generates a longer isoform that initiates translation with leucine and is thought to be preferentially associated with the inner mitochondrial membrane. This longer isoform may help regulate mitochondrial energy metabolism. A pseudogene of this gene has been found on chromosome 9. Alternative splicing and the use of multiple translation initiation codons result in multiple transcript variants encoding different isoforms.