Aliases

• HFE2
• HFE2A
• HJV
• Hemochromatosis type 2 protein
• JH
• RGM domain family member C
• RGM-C
• RGMC
• haemojuvelin
• hemochromatosis type 2 (juvenile)
• hemojuvelin
• repulsive guidance molecule c

Description

HFE2, also known as RGM-C, is a member of the repulsive guidance molecule (RGM) family and is involved in iron metabolism. HFE2 may act as a bone morphogenetic protein (BMP) coreceptor. It is also thought to be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Mutations in the HFE2 gene cause hemochromatosis type 2A, also called juvenile hemochromatosis (JH), an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30.

Attributes

QA State

Curated

Type

Protein

HGNC Name

HFE2