Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
UniProtKB entry P19099 (C11B2_HUMAN), Cytochrome P450 11B2, mitochondrial
A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism.
Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans.
Regulation of aldosterone and cortisol production by the transcriptional repressor neuron restrictive silencer factor.
Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism.
Structural insights into aldosterone synthase substrate specificity and targeted inhibition.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies.
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II.
CYP11B2 oxidises 18HCORST to ALDO
Mineralocorticoid biosynthesis
CYP11B2 18-hydroxylates CORST to 18HCORST
CYP11B2 oxidises 11DCORST to CORST
Defective CYP11B2 does not oxidise 11DCORST
Defective CYP11B2 does not oxidise 18HCORST
Defective CYP11B2 does not oxidise CORST