FAH Antibody (PACO09195)
- SKU:
- PACO09195
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
抗体名: | FAH Antibody (PACO09195) |
抗体コード: | PACO09195 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, WB |
推奨される希釈: | |
反応性: | Human, Mouse, Rat |
免疫原: | Human FAH |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
精製方法: | Antigen Affinity purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
シノニム: | fumarylacetoacetate hydrolase (fumarylacetoacetase); |
UniProt Protein Function: | FAH: Defects in FAH are the cause of tyrosinemia type 1 (TYRO1). An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. Belongs to the FAH family. |
UniProt Protein Details: | Protein type:Amino Acid Metabolism - tyrosine; EC 3.7.1.2; Hydrolase Chromosomal Location of Human Ortholog: 15q25.1 Cellular Component: cytosol Molecular Function:fumarylacetoacetase activity; metal ion binding Biological Process: L-phenylalanine catabolic process; tyrosine catabolic process; arginine catabolic process Disease: Tyrosinemia, Type I |
NCBI Summary: | This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008] |
UniProt Code: | P16930 |
NCBI GenInfo Identifier: | 119778 |
NCBI Gene ID: | 2184 |
NCBI Accession: | P16930.2 |
UniProt Related Accession: | P16930 |
Molecular Weight: | ~ 46kDa |
NCBI Full Name: | Fumarylacetoacetase |
NCBI Synonym Full Names: | fumarylacetoacetate hydrolase |
NCBI Official Symbol: | FAH |
NCBI Protein Information: | fumarylacetoacetase |
UniProt Protein Name: | Fumarylacetoacetase |
UniProt Synonym Protein Names: | Beta-diketonase; Fumarylacetoacetate hydrolase |
Protein Family: | Fumarylacetoacetase |
UniProt Gene Name: | FAH |
UniProt Entry Name: | FAAA_HUMAN |