FH anticorps
Aperçu rapide pour FH anticorps (ABIN568200)
Antigène
Voir toutes FH AnticorpsReactivité
Hôte
Clonalité
Conjugué
Application
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Purification
- Ammonium Sulphate Precipitation and Ion Exchange Chromatography
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Immunogène
- Fumarase is isolated and purified from Porcine heart Freund’s complete adjuvant is used in the first step of the immunization procedure.
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Isotype
- IgG
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Indications d'application
- Optimal working dilution should be determined by the investigator.
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Restrictions
- For Research Use only
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Reconstitution
- Restore by adding 1.0 mL of sterile distilled water
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Concentration
- 10.0 mg/mL
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Buffer
- PBS, pH 7.2 without preservatives and foreign proteins
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Agent conservateur
- Without preservative
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Stock
- 4 °C/-20 °C
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Stockage commentaire
- Store the antibody lyophilized at 2-8 °C and reconstituted at 2-8 °C for one week or (in aliquots) at -20 °C for longer. If a slight precipitation occurs upon storage, this should be removed by centrifugation.
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- FH (Fumarate Hydratase (FH))
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Autre désignation
- Fumarase
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Sujet
- Defects in FH are the cause of fumarase deficiency (FHD) [MIM:606812], also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. Defects in FH are the cause of multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]. MCUL1 is an autosomal dominant condition in which affected individuals develop benign smooth muscle tumors (leiomyomata) of the skin. Affected females also usually develop leiomyomata of the uterus (fibroids). Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839].Synonyms: HLRCC, LRCC, MCL, MCUL1, mitochondrial Fumarate hydratase
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ID gène
- 9823
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UniProt
- P10173
Antigène
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