FH
Reactivity: Human
WB, ELISA, IF
Host: Mouse
Monoclonal
2C5
unconjugated
Application Notes
Optimal working dilution should be determined by the investigator.
Restrictions
For Research Use only
Reconstitution
Restore by adding 1.0 mL of sterile distilled water
Concentration
10.0 mg/mL
Buffer
PBS, pH 7.2 without preservatives and foreign proteins
Preservative
Without preservative
Storage
4 °C/-20 °C
Storage Comment
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.
Target
FH
(Fumarate Hydratase (FH))
Alternative Name
Fumarase
Background
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