Literature summary for 1.1.1.145 extracted from

Wang, L.; Salavaggione, E.; Pelleymounter, L.; Eckloff, B.; Wieben, E.; Weinshilboum, R.
Human 3beta-hydroxysteroid dehydrogenase types 1 and 2: Gene sequence variation and functional genomics (2007), J. Steroid Biochem. Mol. Biol., 107, 88-99.

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Application

Application	Comment	Organism
medicine	identification of 17 single nucleotide polymorphisms in isoforms Hsd3B1 and Hsd3B2. Analysis of polymorphism locations, alterations in nucleotide and amino acid sequences and frequencies of the polymorphisms. None of the polymorphisms alters cellular localization of the enzyme	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	identification of 17 single nucleotide polymorphisms in isoforms Hsd3B1 and Hsd3B2. Analysis of polymorphism locations, alterations in nucleotide and amino acid sequences and frequencies of the polymorphisms. None of the polymorphisms alters cellular localization of the enzyme	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	isoforms Hsd3B1, Hsd3B2	-

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Release 2023.1 (January 2023)