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MGP001080

UniProt Annotations

Entry Information
Gene Namefumarate hydratase
Protein EntryFUMH_HUMAN
UniProt IDP07954
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative initiation; Named isoforms=2; Name=Mitochondrial; IsoId=P07954-1; Sequence=Displayed; Name=Cytoplasmic; IsoId=P07954-2; Sequence=VSP_018965; Note=Initiator Met-1 is removed. Contains a N-acetylalanine at position 2 (By similarity). {ECO:0000250};
Catalytic Activity(S)-malate = fumarate + H(2)O.
DiseaseFumarase deficiency (FHD) [MIM:606812]: Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. {ECO:0000269|PubMed:9635293, ECO:0000269|Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]: A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients. {ECO:0000269|PubMed:11865300}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAlso acts as a tumor suppressor.
MiscellaneousThere 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 (By similarity). {ECO:0000250}.
PathwayCarbohydrate metabolism; tricarboxylic acid cycle; (S)- malate from fumarate: step 1/1.
SimilarityBelongs to the class-II fumarase/aspartase family. Fumarase subfamily. {ECO:0000305}.
Subcellular LocationIsoform Cytoplasmic: Cytoplasm.
Subcellular LocationIsoform Mitochondrial: Mitochondrion.
SubunitHomotetramer. {ECO:0000269|Ref.13}.
Tissue SpecificityExpressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology. {ECO:0000269|PubMed:22509282}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FHID40573ch1q42.html";
Web ResourceName=TCA Cycle Gene Mutation Database; URL="http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=FH";
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