Analysis of PRDM12 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1946-LGZ)

Introduction

Official Full Name: PR/SET domain 12<br />Also known as: PFM9; HSAN8<br />This gene encodes a transcriptional regulator of sensory neuron specification, which plays a key role in pain perception. The encoded protein contains an n-terminal PRDI-BF1 and RIZ homology (PR) domain, a SET domain and three c-terminal C2H2 zinc finger DNA-binding domains. Natural mutations in this gene are associated with congenital pain insensitivity (CIP) and hereditary sensory and autonomic neuropathy (HSAN), which affects peripheral sensory and autonomic neurons. Deletion of this gene is associated with solid cancers and hematological malignancies including chronic myelogenous leukemia.