" /> FH wt Allele - CISMeF





Preferred Label : FH wt Allele;

NCIt synonyms : MCL; Fumarate Hydratase wt Allele; LRCC; MCUL1; HLRCC; Fumarase Gene; FMRD;

NCIt definition : Human FH wild-type allele is located in the vicinity of 1q42.1 and is approximately 22 kb in length. This allele, which encodes fumarate hydratase, mitochondrial protein, is involved in the progression of the tricarboxylic acid cycle. Mutation of the gene is associated with hereditary leiomyomatosis and renal cell cancer, multiple cutaneous and uterine leiomyomata and fumarase deficiency.;

NCIt note : The FH gene encodes both a mitochondrial isoform and a cytoplasmic isoform. The cytoplasmic isoform transcript uses an internal translation start site. (Entrez Gene);

GenBank Accession Number : BC003108;

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10/05/2024


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