Fumarase/FH,富马酸水合酶抗体

产品编号HZ-3938R
英文名称Fumarase/FH
中文名称富马酸水合酶抗体
别 名mitochondrial; FH; Fumarase; Fumarate hydratase; Fumarate hydratase mitochondrial; FUMH_HUMAN; HLRCC; LRCC; MCL; MCUL 1; MCUL1; Multiple hereditary cutaneous leiomyomata.
说 明 书0.1ml 0.2ml
研究领域肿瘤 细胞生物 免疫学 转录调节因子 线粒体
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,
Fumarase/FH,富马酸水合酶抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量51kDa
细胞定位细胞浆 线粒体
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human Fumarate hydratase (447-496aa)
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
Fumarase/FH,富马酸水合酶抗体PubMedPubMed
产品介绍background:
The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]

Function:
Also acts as a tumor suppressor.

Subunit:
Homotetramer.

Subcellular Location:
Cytoplasm, Mitochondrion

Tissue Specificity:
Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.

DISEASE:
Fumarase deficiency (FMRD): The disease is caused by mutations affecting the gene represented in this entry. A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy.
Hereditary leiomyomatosis and renal cell cancer (HLRCC): The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.

Fumarase/FH,富马酸水合酶抗体Similarity:
Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.

Gene ID:
2271

Database links:
Entrez Gene: 520260 Cow
Entrez Gene: 480092 Dog
Entrez Gene: 2271 Human
Entrez Gene: 14194 Mouse
Entrez Gene: 100627128 Pig
Entrez Gene: 24368 Rat
Entrez Gene: 393938 Zebrafish
Omim: 136850 Human
SwissProt: P07954 Human
SwissProt: P97807 Mouse
SwissProt: P10173 Pig
SwissProt: P14408 Rat
SwissProt: Q7SX99 Zebrafish
Unigene: 592490 Human
Unigene: 41502 Mouse
Unigene: 29782 Rat
Unigene: 104452 Zebrafish

Fumarase/FH,富马酸水合酶抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.