Literature summary for 1.3.5.1 extracted from

Pigny, P.; Vincent, A.; Cardot Bauters, C.; Bertrand, M.; de Montpreville, V.T.; Crepin, M.; Porchet, N.; Caron, P.
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation (2008), J. Clin. Endocrinol. Metab., 93, 1609-1615.

Search for more literature for 1.3.5.1

Cloned(Commentary)

Cloned (Comment)	Organism
gene SDHD, encoding the cybS subunit of the succinate dehydrogenase, mapps to chromosome 11q23, genotyping of native wild-type and mutant genes, overview	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
W43X	a naturally occurring mutation of the enzyme leads to hypermethylation of the seventh CTCF binding site in the germline and causes paragnaglioma after maternal transmission, study of a three-generation comprising mutation in the germline, phenotype and molecular analysis, overview	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	mutations of the enzyme can cause hereditary paraganglioma and/or pheochromocytoma, overview	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	mutations of the enzyme can cause hereditary paraganglioma and/or pheochromocytoma, overview	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
SDH	-	Homo sapiens

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Release 2023.1 (January 2023)