Literature summary for 1.14.15.4 extracted from

Parajes, S.; Loidi, L.; Reisch, N.; Dhir, V.; Rose, I.T.; Hampel, R.; Quinkler, M.; Conway, G.S.; Castro-Feijoo, L.; Araujo-Vilar, D.; Pombo, M.; Dominguez, F.; Williams, E.L.; Cole, T.R.; Kirk, J.M.; Kaminsky, E.; Rumsby, G.; Arlt, W.; Krone, N.
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11beta-hydroxylase deficiency (2010), J. Clin. Endocrinol. Metab., 95, 779-788.

Cloned(Commentary)

Cloned (Comment)	Organism
CYP11B1 genotyping, overview. Expression of wild-type and mutant CYP11B1s in COS-7 cells	Homo sapiens

Protein Variants	Comment	Organism
A165D	naturally occuring mutation in CYP11B1, inactive or almost inactive mutant	Homo sapiens
K254_A259del	naturally occuring mutation in CYP11B1, inactive or almost inactive mutant	Homo sapiens
M88I	naturally occuring mutation in CYP11B1, the mutant shows 40% of wild-type activity	Homo sapiens
P159L	naturally occuring mutation in CYP11B1, the mutant shows 25% of wild-type activity	Homo sapiens
R366C	naturally occuring mutation in CYP11B1, the mutant shows 23% of wild-type activity	Homo sapiens
R383Q	naturally occuring mutation in CYP11B1, the mutant shows highly reduced activity and is severely involved in CYP11B1 deficiency and congenital adrenal hyperplasia	Homo sapiens
T401A	naturally occuring mutation in CYP11B1, the mutant shows 37% of wild-type activity	Homo sapiens
W116G	naturally occuring mutation in CYP11B1, inactive or almost inactive mutant	Homo sapiens

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	steroid 11beta-hydroxylase converts 11-deoxycortisol and 11-deoxycorticosterone to cortisol and corticosterone, respectively	?	-	?

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	steroid 11beta-hydroxylase converts 11-deoxycortisol and 11-deoxycorticosterone to cortisol and corticosterone, respectively	Homo sapiens	?	-	?

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

General Information	Comment	Organism
additional information	steroid 11beta-hydroxylase, CYP11B1, deficiency, i.e. 11OHD, is the second most common form of congenital adrenal hyperplasia. Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency, genotypes and phenotypes, overview	Homo sapiens
physiological function	steroid 11beta-hydroxylase converts 11-deoxycortisol and 11-deoxycorticosterone to cortisol and corticosterone, respectively	Homo sapiens