Anti-HFE2 Antibody (CAB5348)
- SKU:
- CAB5348
- Product type:
- Antibody
- Reactivity:
- Mouse
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
| Antibody Name: | Anti-HFE2 Antibody |
| Antibody SKU: | CAB5348 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-174 of human HFE2 (NP_998817.1). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Mouse, Rat |
| Positive Samples: | Rat heart |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-174 of human HFE2 (NP_998817.1). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | MQEC IDQK VYQA EVDN LPVA FEDG SING GDRP GGSS LSIQ TANP GNHV EIQA AYIG TTII IRQT AGQL SFSI KVAE DVAM AFSA EQDL QLCV GGCP PSQR LSRS ERNR RGAI TIDT ARRL CKEG LPVE DAYF HSCV FDVL ISGD PNFT VAAQ AALE DARA FLPD LEKL HLFP SD |
| Gene ID: | 148738 |
| Uniprot: | Q6ZVN8 |
| Cellular Location: | Cell membrane, GPI-anchor, Lipid-anchor |
| Calculated MW: | 21kDa/33kDa/45kDa |
| Observed MW: | 52kDa |
| Synonyms: | HFE2, HFE2A, HJV, JH, RGMC |
| Background: | 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. |
| UniProt Protein Function: | HFE2: Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. Acts as a bone morphogenetic protein (BMP) coreceptor. Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism. May cooperate with hepcidin to restrict iron absorption in the gut. Could represent the cellular receptor for hepcidin. Defects in HFE2 are the cause of hemochromatosis type 2A (HFE2A); also known as juvenile hemochromatosis (JH). HFE2A 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. It is the consequence of intestinal iron hyperabsorption associated with macrophages that do not load iron. Deleterious mutations of HFE2 reduced HAMP (hepcidin) levels despite iron overload, which normally induces HAMP expression. Belongs to the repulsive guidance molecule (RGM) family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Membrane protein, GPI anchor Chromosomal Location of Human Ortholog: 1q21.1 Cellular Component: extracellular space; cell surface; plasma membrane Molecular Function:protein binding; coreceptor activity Biological Process: BMP signaling pathway; axon guidance; iron ion homeostasis; positive regulation of transcription from RNA polymerase II promoter Disease: Hemochromatosis, Type 2a |
| NCBI Summary: | 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, Jul 2008] |
| UniProt Code: | Q6ZVN8 |
| NCBI GenInfo Identifier: | 51316254 |
| NCBI Gene ID: | 148738 |
| NCBI Accession: | Q6ZVN8.1 |
| UniProt Secondary Accession: | Q6ZVN8,Q2PQ63, Q6IMF6, Q8NAH2, Q8WVJ5, B1ALI7, |
| UniProt Related Accession: | Q6ZVN8 |
| Molecular Weight: | 426 |
| NCBI Full Name: | Hemojuvelin |
| NCBI Synonym Full Names: | hemochromatosis type 2 (juvenile) |
| NCBI Official Symbol: | HFE2 |
| NCBI Official Synonym Symbols: | JH; HJV; RGMC; HFE2A |
| NCBI Protein Information: | hemojuvelin; haemojuvelin; RGM domain family member C; repulsive guidance molecule c; hemochromatosis type 2 protein |
| UniProt Protein Name: | Hemojuvelin |
| UniProt Synonym Protein Names: | Hemochromatosis type 2 protein; RGM domain family member C |
| UniProt Gene Name: | HFE2 |
| UniProt Entry Name: | RGMC_HUMAN |
 | Western blot analysis of extracts of Rat heart, using HFE2 Rabbit pAb (CAB5348) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s. |
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