HFE2 anticorps
Aperçu rapide pour HFE2 anticorps (ABIN6569858)
Antigène
Voir toutes HFE2 AnticorpsReactivité
Hôte
Clonalité
Conjugué
Application
-
-
Purification
- Affinity purification
-
Immunogène
- Recombinant protein of human HFE2
-
Isotype
- IgG
-
-
-
-
Indications d'application
- WB 1:500 - 1:2000
-
Restrictions
- For Research Use only
-
-
-
Concentration
- 1 mg/mL
-
Buffer
- Buffer: PBS with 0.02 % sodium azide, 50 % glycerol, pH 7.3.
-
Agent conservateur
- Sodium azide
-
Précaution d'utilisation
- This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
-
Stock
- -20 °C
-
Stockage commentaire
- Store at -20°C. Avoid freeze / thaw cycles.
-
-
- HFE2 (Hemochromatosis Type 2 (Juvenile) (HFE2))
-
Autre désignation
- HFE2
-
Sujet
-
Synonyms: 2310035L15Rik,5230400G09Rik ,AI414844,AI789733,DL M,Haemojuvelin,HEMOCHROMATOSIS,HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN,HEMOCHROMATOSIS DUE TO DEFECT IN HEPCIDIN ANTIMICROBIAL PEPTIDE,HEMOCHROMATOSIS JUVENILE,Hemochromatosis type 2 (juvenile),Hemochromatosis type 2,Hemochromatosis type 2 protein,Hemochromatosis type 2 protein homolog,HEMOCHROMATOSIS, TYPE 2A,HEMOCHROMATOSIS, TYPE 2B,Hemojuvelin,HFE 2,Hfe2,HFE2A,HJV,JH,Juvenile,MGC23953,OTTHUMP00000059680,Repulsive guidance molecule c,RGM C,RGM domain family member C,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.
-
Poids moléculaire
-
Observed_MW: 48kDa
Calculated_MW: 21kDa/33kDa/45kDa
-
ID gène
- 148738
-
UniProt
- Q6ZVN8
-
Pathways
- Transition Metal Ion Homeostasis
Antigène
-