Fumarase antibody

Principal name

Fumarase antibody

Alternative names for Fumarase antibody

HLRCC, LRCC, MCL, MCUL1, mitochondrial Fumarate hydratase

SwissProt ID

P07954 (Human), P10173 (Pig), P14408 (Rat), P97807 (Mouse)

Gene ID

2271 (FH)

Available reactivities

Hu (Human), Por (Porcine), Bov (Bovine), Can (Canine), Chk (Chicken), Eq (Equine), Fi (Fish), Hst (Hamster), Insect, Mky (Monkey), Ms (Mouse), Op (Opossum), Prim (Primate), Rt (Rat), Sh (Sheep), Xen (Xenopus), Tr (Turkey), L (Lizard), Bear

Available hosts

Mouse, Goat, Rabbit

Available applications

Enzyme Immunoassay (E), Immunocytochemistry/Immunofluorescence (ICC/IF), Western blot / Immunoblot (WB), Paraffin Sections (P), Dot blot (Dot), Immunodiffusion (ID), Immunoprecipitation (IP), Radioimmunoassay (R), Flow Cytometry (F)

Background of Fumarase antibody

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].

General readings

Lehtonen R., et al. (2003) J. Med. Genet. 40 (3): e19.
Toro JR., et al. (2003) Am. J. Hum. Genet. 73(1): 95-106.

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