Analysis of HJV Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0135-LGZ)

Introduction

Also known as: JH; HFE2; RGMC; HFE2A
The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway that activates hepcidin and may be a modulator of hepcidin expression. It may also represent the cellular receptor for hepcidin. Two uORFs in the 5'UTR negatively regulate the expression and activity of the encoded protein. Alternative splicing transcript variants encoding different isoforms of this gene have been identified. Defects in this gene are the cause of type 2A hemochromatosis, also known as juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder of hypogonadotropic, hepatic fibrosis or cirrhosis, and cardiomyopathy due to severe iron overload, usually before the age of 30 years.