Literature summary for 1.3.5.1 extracted from

Takekoshi, K.; Isobe, K.; Suzuki, H.; Nissato, S.; Kawakami, Y.; Kawai, K.; Yamada, N.
R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis (2008), Endocr. J., 55, 299-303.

Search for more literature for 1.3.5.1

Protein Variants

Protein Variants	Comment	Organism
R46Q	a naturally occuring mutation in gene SDHB in a Japanese family with both abdominal and thoracic paraganglioma following metastasis	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	the nuclear genes SDHD and SDHB encode two mitochondrial enzyme complex II subunits and are associated with the development of familial pheochromocytomas and paraganglioma, i.e. the hereditary pheochromocytoma/paraganglioma syndrome, HPPS, and the following metastasis, overview	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	genes SDHD and SDHB	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	the nuclear genes SDHD and SDHB encode two mitochondrial enzyme complex II subunits and are associated with the development of familial pheochromocytomas and paraganglioma, i.e. the hereditary pheochromocytoma/paraganglioma syndrome, HPPS, and the following metastasis, overview	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
SDH	-	Homo sapiens

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Release 2023.1 (January 2023)