Anti-HFE2 monoclonal antibody, clone Gfsz-2

Antibody Isotype

IgG2b

Clone

Gfsz-2

Species Reactivity

Mouse; Human

Immunogen

Recombinant fragment, corresponding to amino acids 36-398 of Human Repulsive Guidance Molecule C

Conjugate

Application Notes

WB: 1/1000;

Alternative Names

HFE2; hemochromatosis type 2 (juvenile); hemojuvelin; haemojuvelin; HFE2A; HJV; JH; repulsive guidance molecule c; RGMC; 2310035L15Rik; 5230400G09Rik; AI414844; AI789733; DL M; Haemojuvelin; HEMOCHROMATOSIS; HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN; H

Entrez Gene ID

UniProt ID

Antigen 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.

Pathway

Axon guidance, organism-specific biosystem; BMP receptor signaling, organism-specific biosystem; Developmental Biology, organism-specific biosystem; Netrin-1 signaling, organism-specific biosystem;