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Sequence of this protein is as follows: VPSFWPPNAA RMASQNSFRI EYDTFGELKV PNDKYYGAQT VRSTMNFKIG GVTERMPTPV IKAFGILKRA AAEVNQDYGL DPKIANAIMK AADEVAEGKL NDHFPLVVWQ TGSGTQTNMN VNEVISNRAI EMLGGELGSK IPVHPNDHVN KSQSSNDTFP TAMHIAAAIE VHEVLLPGLQ KLHDALDAKS KEFAQIIKIG RTHTQDAVPL TLGQEFSGYV QQVKYAMTRI KAAMPRIYEL AAGGTAVGTG LNTRIGFAEK VAAKVAALTG LPFVTAPNKF EALAAHDALV ELSGAMNTTA CSLMKIANDI RFLGSGPRSG LGELILPENE PGSSIMPGKV NPTQCEAMTM VAAQVMGNHV AVTVGGSNGH FELNVFKPMM IKNVLHSARL LGDASVSFTE NCVVGIQANT ERINKLMNES LMLVTALNPH IGYDKAAKIA KTAHKNGSTL KETAIELGYL TAEQFDEWVK PKDMLGPK
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Fumarase; Fumarate hydratase, mitochondrial
基因别名: FH; FMRD; HLRCC; LRCC; MCL; MCUL1
UniProt ID: (Human) P07954
Entrez Gene ID: (Human) 2271
分子生物学功能: lyase