RGM-C/Hemojuvelin Products

Description

The product of this gene is involved in iron metabolism. It may 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. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is 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. [provided by RefSeq]

Bioinformatics

Entrez	148738 Human
Uniprot	NM_145277 Human NP_660320.3 Human NP_973733 Human
Product By Gene ID	148738
Alternate Names	haemojuvelin hemochromatosis type 2 (juvenile) hemojuvelin HFE2AMGC23953 HJVHemochromatosis type 2 protein JH repulsive guidance molecule c RGMCRGM domain family member C