Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for FH (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2271
Official gene symbolFH
Full namefumarate hydratase
Aliases,HLRCC,LRCC,MCL,MCUL1,
Gene summaryThe protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) 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. [provided by RefSeq]
LocationChromosome: 1   Locus: 1q42.1
Gene position241683085 - 241660857  Map Viewer
Gene orientationminus
Gene size22229 bp
Gene sequence
OMIM ID136850