RBCC

FUMH_HUMAN

Source: hRBCD ; ID: IPI00296053
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: FH
Protein names and data: FUMH_HUMAN , Fumarate hydratase, mitochondrial; Fumarase; 4.2.1.2; Flags: Precursor Lenght: 510 a.a.
Mass: 54637 Da
fasta formatted sequence
Function: Also acts as a tumor suppressor.
Catalytic activity: (S)-malate = fumarate + H(2)O.
Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; (S)- malate from fumarate: step 1/1.
Disease: ( OMIM: 136850 150800 606812 ) Fumarase deficiency (FHD) [MIM:606812]: Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. Note=The disease is caused by mutations affecting the gene represented in this entry. Hereditary 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Isoform Mitochondrial: Mitochondrion. Isoform Cytoplasmic: Cytoplasm.
Tissue specificity: Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology.

Genetic variants

107 - 107 N -> T (in HLRCC). VAR_013497
117 - 117 A -> P (in HLRCC). VAR_013498
180 - 180 H -> R (in HLRCC). VAR_013499
185 - 185 Q -> R (in HLRCC). VAR_013500
230 - 230 K -> R (in FHD and HLRCC). VAR_002445
233 - 233 R -> H (in HLRCC; dbSNP:rs28933069). VAR_013501 28933069
282 - 282 G -> V (in HLRCC). VAR_013502
308 - 308 A -> T (in FHD). VAR_002446
312 - 312 F -> C (in FHD). VAR_002447
328 - 328 M -> R (in HLRCC). VAR_013503
425 - 425 D -> V (in FHD). VAR_002448

Database cross-references

UniProt: P07954
Ensembl: ENST00000366560
MIM: 136850
MIM: 150800
MIM: 606812
neXtProt: NX_P07954
Antibodypedia: P07954 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

FUMH_HUMAN

Genetic variants

Database cross-references

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