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Immunogen sequence: MYRALRLLA RSRPLVRAPA AALASAPGLG GAAVPSFWPP NAARMASQNS FRIEYDTFGE LKVPNDKYYG AQTVRSTMNF KIGGVTERMP TPVIKAFGIL KRAAAEVNQD YGLDPKIANA IMKAADEVAE GKLNDHFPLV VWQTGSGTQT NMNVNEVISN RAIEMLGGEL GSKIPVHPND HVNKSQSSND TFPTAMHIAA AIEVHEVLLP GLQKLHDALD AKSKEFAQII KIGRTHTQDA VPLTLGQEFS GYVQQVKYAM TRIKAAMPRI YELAAGGTAV GTGLNTRIGF AEKVAAKVAA LTGLPFVTAP NKFEALAAHD ALVELSGAMN TTACSLMKIA NDIRFLGSGP RSGLGELILP ENEPGSSIMP GKVNPTQCEA MTMVAAQVMG NHVAVTVGGS NGHFELNVFK PMMIKNVLHS ARLLGDASVS FTENCVVGIQ ANTERINKLM NESLMLVTAL NPHIGYDKAA KIAKTAHKNG STLKETAIEL GYLTAEQFDE WVKPKDMLGP K (1-510 aa encoded by BC017444)
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.
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Protein Aliases: EF-3; Fumarase; fumarate hydratase 1; Fumarate hydratase, mitochondrial
Gene Aliases: FH; Fh-1; Fh1; FMRD; HLRCC; LRCC; MCL; MCUL1