General 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)
Immunogen
HFE2 (NP_660320.3, 1 a.a. ~ 313 a.a) full-length human protein.
Sequence
MIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ
Physical form
Solution in phosphate buffered saline, pH 7.4
| biological source | mouse |
| Quality Level | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | polyclonal |
| form | buffered aqueous solution |
| mol wt | antigen ~33.7 kDa |
| species reactivity | human |
| technique(s) | western blot: 1 μg/mL |
| NCBI accession no. | NM_145277.3 |
| UniProt accession no. | Q6ZVN8 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... HFE2(148738) |
