| Species : |
Human |
| Source : |
E.coli |
| Tag : |
His |
| Protein Length : |
Met227-Asp400 |
| 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. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. 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. |
| Molecular Mass : |
21.11 kDa |
| Purity : |
>90 % as determined by SDS-PAGE. |
| Notes : |
For research use only. |
| Storage : |
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8 centigrade for one week. Store at -20 to -80 centigrade for twelve months from the date of receipt. |
| Storage Buffer : |
0.01M PBS, pH 7.4, 0.02 % NLS |
| Reconstitution : |
Reconstitute in sterile water for a stock solution. |
| Shipping : |
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise. |
