FIGURE: 1 / 3
Immunogen sequence: MYRALRLLAR SRPLVRAPAA ALASAPGLGG AAVPSFWPPN AARMASQNSF RIEYDTFGEL KVPNDKYYGA QTVRSTMNFK IGGVTERMPT PVIKAFGILK RAAAEVNQDY GLDPKIANAI MKAADEVAEG KLNDHFPLVV WQTGSGTQTN MNVNEVISNR AIEMLGGELG SKIPVHPNDH VNKSQSSNDT FPTAMHIAAA IEVHEVLLPG LQKLHDALDA KSKEFAQIIK IGRTHTQDAV PLTLGQEFSG YVQQVKYAMT RIKAAMPRIY ELAAGGTAVG; Positive Samples: U-87MG, LO2, 22Rv1, NCI-H460, HL-60, NIH/3T3, Mouse heart, Mouse kidney, Rat liver; Cellular Location: Cytoplasm, Mitochondrion
The protein encoded by this gene is an enzymatic component of the tricarboxylic acid 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.
Protein Aliases: EF-3; Fumarase; fumarate hydratase 1; Fumarate hydratase, mitochondrial
Gene Aliases: FH; Fh-1; Fh1; FMRD; HLRCC; LRCC; MCL; MCUL1