FH Rabbit Polyclonal Antibody (ER1902-01)

UNIPROT #

P07954

PROTEIN NAME

FH

SYNONYMS

FH antibody;Fumarase antibody;Fumarate hydratase antibody;Fumarate hydratase mitochondrial antibody;Fumarate hydratase, mitochondrial antibody;FUMH_HUMAN antibody;HLRCC antibody;LRCC antibody;MCL antibody;MCUL 1 antibody;MCUL1 antibody;MS709 antibody;Multiple hereditary cutaneous leiomyomata antibody

SEQUENCE SIMILARITIES

Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.

TISSUE SPECIFICITY

Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.

POST-TRANSLATIONAL MODIFICATION

[Isoform Cytoplasmic]: Phosphorylation at Thr-236 by PRKDC in response to DNA damage promotes translocation to the nucleus and recruitment to DNA double-strand breaks (DSBs).

SUBCELLULAR LOCATION

Mitochondrion, cytosol, nucleus, chromosome.

FUNCTION

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.