Summary

Gene Name	FH
Specie	Homo sapiens
Full Name	fumarate hydratase
Also known as	FMRD|HLRCC|HsFH|LRCC|MCL|MCUL1
Coordinate	chr1:241497603-241519755
Strand	-
Gene summary	The 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, Jul 2008]

Retrocopy(s) from FH

Retroname	Coord	Strand	Genomic Region	ENSG
FHP1	chr13:42255874-42256575	+	Intergenic	ENSG00000234213	UCSC
FHP2	chr5:33996998-33997668	-	Intragenic	ENSG00000250767	UCSC

Expression

Transcript Sequences

>NM_000143.4

GCCCAGAAATTCTACCCAAGCTCCCTCAGCACCATGTACCGAGCACTTCGGCTCCTCGCGCGCTCGCGTCCCCTCGTGCGGGCTCCAGCCGCAGCCTTAGCTTCGGCTCCCGGCTTGGGTGGCGCGGCCGTGCCCTCGTTTTGGCCTCCGAACGCGGCTCGAATGGCAAGCCAAAATTCCTTCCGGATAGAATATGATACCTTTGGTGAACTAAAGGTGCCAAATGATAAGTATTATGGCGCCCAGACCGTGAGATCTACGATGAACTTTAAGATTGGAGGTGTGACAGAACGCATGCCAACCCCAGTTATTAAAGCTTTTGGCATCTTGAAGCGAGCGGCCGCTGAAGTAAACCAGGATTATGGTCTTGATCCAAAGATTGCTAATGCAATAATGAAGGCAGCAGATGAGGTAGCTGAAGGTAAATTAAATGATCATTTTCCTCTCGTGGTATGGCAGACTGGATCAGGAACTCAGACAAATATGAATGTAAATGAAGTCATTAGCAATAGAGCAATTGAAATGTTAGGAGGTGAACTTGGCAGCAAGATACCTGTGCATCCCAACGATCATGTTAATAAAAGCCAGAGCTCAAATGATACTTTTCCCACAGCAATGCACATTGCTGCTGCAATAGAAGTTCATGAAGTACTGTTACCAGGACTACAGAAGTTACATGATGCTCTTGATGCAAAATCCAAAGAGTTTGCACAGATCATCAAGATTGGACGTACTCATACTCAGGATGCTGTTCCACTTACTCTTGGGCAGGAATTTAGTGGTTATGTTCAACAAGTAAAATATGCAATGACAAGAATAAAAGCTGCCATGCCAAGAATCTATGAGCTCGCAGCTGGAGGCACTGCTGTTGGTACAGGTTTAAATACTAGAATTGGCTTTGCAGAAAAGGTTGCTGCAAAAGTGGCTGCACTTACAGGCTTGCCTTTTGTCACTGCTCCGAATAAATTTGAAGCTCTGGCTGCTCATGACGCTCTGGTTGAGCTCAGTGGAGCCATGAACACTACTGCCTGCAGTCTGATGAAGATAGCAAATGATATTCGATTTTTGGGTTCTGGTCCTCGGTCAGGTCTGGGAGAATTGATCTTGCCTGAAAATGAACCAGGAAGCagtatcatgccagGCAAGGTGAACCCTACTCAGTGTGAAGCAATGACCATGGTTGCAGCCCAAGTCATGGGGAACCATGTTGCTGTCACTGTCGGAGGCAGCAATGGACATTTTGAGTTGAATGTTTTCAAGCCAATGATGATTAAAAATGTGTTACACTCAGCCAGGCTGCTGGGGGATGCTTCAGTTTCCTTTACAGAAAACTGCGTGGTGGGAATCCAGGCCAATACAGAAAGGATCAACAAGCTGATGAATGAGTCTCTAATGTTGGTGACAGCTCTCAATCCTCATATAGGGTATGACAAGGCAGCAAAGATTGCTAAGACAGCACACAAAAATGGATCAACCTTAAAGGAAACTGCTATCGAACTTGGCTATCTCACAGCAGAGCAGTTTGACGAATGGGTAAAACCTAAGGACATGCTGGGTCCAAAGTGATTTACATAAATTTATAATGAAAATAAACATGTATAAAATTTAAAAAAACAGACTCCCATTTCTTAAAAACGGATAAGTTTGAAAGGAAACTGCTATTGAACTTAAGCATCTCTAGCAGAGCAATTTGATCAGTATATAAAACCCTAGGATGTGCTAGGTCTAAGATGGATTAAACAAGTataaaataaaatacatttataaaataaaaAGGAAAACAGACTTAAA