Literature summary for 1.3.5.1 extracted from

Pasini, B.; McWhinney, S.R.; Bei, T.; Matyakhina, L.; Stergiopoulos, S.; Muchow, M.; Boikos, S.A.; Ferrando, B.; Pacak, K.; Assie, G.; Baudin, E.; Chompret, A.; Ellison, J.W.; Briere, J.J.; Rustin, P.; Gimenez-Roqueplo, A.P.; Eng, C.; Carney, J.A.; Stratakis, C.A.
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD (2008), Eur. J. Hum. Genet., 16, 79-88.

Cloned(Commentary)

Cloned (Comment)	Organism
DNA and amino acid sequence determinatis of wild-type and germline mutants of the genes coding for the enzyme subunits SDHB, SDHC, and SDHD	Homo sapiens

Protein Variants	Comment	Organism
additional information	clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD, causing gastrointestinal stromal tumors, phenotypes, overview	Homo sapiens

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	enzyme subunit mutations are involved in the Carney-Stratakis syndrome and in development of gastrointestinal stromal tumors, overview	?	-	?

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	enzyme subunit mutations are involved in the Carney-Stratakis syndrome and in development of gastrointestinal stromal tumors, overview	Homo sapiens	?	-	?

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Release 2023.1 (January 2023)