Optimal working dilution should be determined by the investigator.
限制
仅限研究用
状态
Liquid
溶解方式
Restore by adding 1.0 mL of sterile distilled water
浓度
10.0 mg/mL
缓冲液
PBS, pH 7.2 without preservatives and foreign proteins
储存液
Without preservative
储存条件
4 °C/-20 °C
储存方法
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.
抗原
FH
(Fumarate Hydratase (FH))
别名
Fumarase
背景
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