Gene Symbol |
FH
|
Entrez Gene |
2271
|
Alt Symbol |
FMRD, HLRCC, LRCC, MCL, MCUL1
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
fumarate hydratase
|
Other Description |
fumarase|fumarate hydratase, mitochondrial
|
Swissprots |
B1ANK7 P07954
|
Accessions |
AAP57532 EAW70090 EAW70091 EAW70092 EAW70093 P07954 AA669797 AK312415 BAG35325 AW611924 BC003108 AAH03108 BC017444 AAH17444 BT009839 AAP88841 DA129148 EU176358 ABW03809 M15502 AAA52483 U48857 AAD00071 U59309 AAB66354 XM_011544132 XP_011542434 NM_000143 NP_000134
|
Function |
Also acts as a tumor suppressor.
|
Subcellular Location |
Isoform Mitochondrial: Mitochondrion.
|
Tissue Specificity |
Expressed 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}.
|
Top Pathways |
Citrate cycle (TCA cycle), Renal cell carcinoma, Pyruvate metabolism, Carbon metabolism
|