Literature summary for 1.14.14.16 extracted from

Marques, C.J.; Pignatelli, D.; Carvalho, B.; Barcelo, J.; Almeida, A.C.; Fernandes, S.; Witchel, S.F.; Sousa, M.; Oliveira, M.J.; Freitas, P.; Fontoura, M.; Carvalho, D.; Barros, A.; Carvalho, F.
Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia (2010), Exp. Clin. Endocrinol. Diabetes, 118, 505-512.

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Protein Variants

Protein Variants	Comment	Organism
L236N/V237E/M239K	the mutation is associated with congenital adrenal hyperplasia	Homo sapiens
additional information	deletions/conversions involving the promoter region of the CYP21A2 gene (IVS2-12C/A>G, F306-L307insT) are associated with congenital adrenal hyperplasia	Homo sapiens
P30L	the mutation is associated with congenital adrenal hyperplasia	Homo sapiens
Q318X	the mutation is associated with congenital adrenal hyperplasia	Homo sapiens
R356W	the mutation is associated with congenital adrenal hyperplasia	Homo sapiens
V281L	the mutation is associated with congenital adrenal hyperplasia	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P08686	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Synonyms

Synonyms	Comment	Organism
21-hydroxylase	-	Homo sapiens

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Release 2023.1 (January 2023)