Analysis of TBX19 Gene (Mutation) in Lymphatic malformation 6 by RT-qPCR (CAT#: STEM-MT-0162-LGZ)

Introduction

Also known as: TPIT; TBS19; dJ747L4.1<br />The gene is a member of a phylogenetically conserved gene family that shares a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated pituitary POMC-derived ACTH deficiency, suggesting that this gene plays an important role in the differentiation of pituitary POMC lineages. ACTH deficiency is characterized by adrenal insufficiency, such as weight loss, loss of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure.