信号通路： Citrate cycle (TCA cycle);Pathways in cancer;Renal cell carcinoma;
功能： catalytic activity:(S)-malate = fumarate + H(2)O.,disease:Defects in FH are the cause of fumarase deficiency (FD) [MIM:606812]; also known as fumaricaciduria. FD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.,disease:Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839].,disease: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).,function:Also acts as a tumor suppressor.,miscellaneous:There are 2 substrate binding sites: the catalytic A site, and the non-catalytic B site that may play a role in the transfer of substrate or product between the active site and the solvent. Alternatively, the B site may bind allosteric effectors.,pathway:Carbohydrate metabolism; tricarboxylic acid cycle.,PTM:Isoform Cytoplasmic is acetylated at position 2.,similarity:Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.,subunit:Homotetramer.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform Mitochondrial]: Mitochondrion .; [Isoform Cytoplasmic]: Cytoplasm, cytosol . Nucleus . Chromosome . Translocates to the nucleus in response to DNA damage: localizes to DNA double-strand breaks (DSBs) following phosphorylation by PRKDC. .
组织表达： Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
信号通路： Citrate cycle (TCA cycle);Pathways in cancer;Renal cell carcinoma;
功能： catalytic activity:(S)-malate = fumarate + H(2)O.,disease:Defects in FH are the cause of fumarase deficiency (FD) [MIM:606812]; also known as fumaricaciduria. FD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.,disease:Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839].,disease: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).,function:Also acts as a tumor suppressor.,miscellaneous:There are 2 substrate binding sites: the catalytic A site, and the non-catalytic B site that may play a role in the transfer of substrate or product between the active site and the solvent. Alternatively, the B site may bind allosteric effectors.,pathway:Carbohydrate metabolism; tricarboxylic acid cycle.,PTM:Isoform Cytoplasmic is acetylated at position 2.,similarity:Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.,subunit:Homotetramer.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： [Isoform Mitochondrial]: Mitochondrion .; [Isoform Cytoplasmic]: Cytoplasm, cytosol . Nucleus . Chromosome . Translocates to the nucleus in response to DNA damage: localizes to DNA double-strand breaks (DSBs) following phosphorylation by PRKDC. .
组织表达： Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
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