Literature summary for 1.14.15.4 extracted from

Paperna, T.; Gershoni-Baruch, R.; Badarneh, K.; Kasinetz, L.; Hochberg, Z.
Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews (2005), J. Clin. Endocrinol. Metab., 90, 5463-5465.

Search for more literature for 1.14.15.4

Protein Variants

Protein Variants	Comment	Organism
R448C	isolation and analysis of the narurally occuring mutation in gene CYP11B1 and mutation frequency in congenital adrenal hyperplasia in Moroccan Jews, the mutation is restricted to one family, phenotype, overview	Homo sapiens
R448H	isolation and analysis of the narurally occuring mutation in gene CYP11B1 and mutation frequency in congenital adrenal hyperplasia in Moroccan Jews, phenotype, overview	Homo sapiens
R448H/R448C	isolation and analysis of the narurally occuring mutation in gene CYP11B1 and mutation frequency in congenital adrenal hyperplasia in Moroccan Jews, phenotype, overview	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	enzyme deficiency is a cause for congenital adrenal hyperplasia, overview	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Moroccan Jews	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	enzyme deficiency is a cause for congenital adrenal hyperplasia, overview	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
11-hydroxylase	-	Homo sapiens
CYP11B1	-	Homo sapiens

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Release 2023.1 (January 2023)