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Catalog No. | A5348 |
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Product Name | HFE2 Rabbit pAb |
Supplier Name | ABclonal, Inc. |
Brand Name | Abclonal |
Synonyms | JH; HFE2; RGMC; HFE2A |
Gene Name | HJV |
Protein Name | HJV |
Uniprot/Swissprot ID | Q6ZVN8 |
Entrez GeneID | 148738 |
Clonality | Polyclonal |
Source/Host | Rabbit |
Applications | WB |
Reactivity | Mouse, Rat |
Conjugate | Unconjugated |
Note | Products will be shipped from the warehouse in Massachusetts. Promotion is running from time to time. Welcome to send a request for quote to message@sydlabs.com. |
Order Offline | Syd Labs, Inc. 4 Avenue E, Hopkinton, MA 01748 USA. Phone: 1-617-401-8149 Fax: 1-617-606-5019 Email: message@sydlabs.com |
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.
Additional information
Ship from Country | USA |
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Size | 20 ul, 100 ul, 200 ul, 50 ul |