GO_REF:0000002
Gene Ontology annotation through association of InterPro records with GO terms
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000116
Automatic Gene Ontology annotation based on Rhea mapping
GO_REF:0000117
Electronic Gene Ontology annotations created by ARBA machine learning models
GO_REF:0000120
Combined Automated Annotation using Multiple IEA Methods
file:human/CYP21A2/CYP21A2-uniprot.txt
UniProtKB entry P08686 (CP21A_HUMAN), Steroid 21-hydroxylase
PMID:10198222
Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).
PMID:1406709
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
PMID:16984992
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
PMID:22014889
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
PMID:25855791
Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE.
PMID:27721825
Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.
Reactome:R-HSA-193964
CYP21A2 21-hydroxylates PROG
Reactome:R-HSA-193981
CYP21A2 oxidises 17HPROG
Reactome:R-HSA-193993
Mineralocorticoid biosynthesis
Reactome:R-HSA-194002
Glucocorticoid biosynthesis
Reactome:R-HSA-211976
Endogenous sterols
Reactome:R-HSA-5601976
Defective CYP21A2 does not 21-hydroxylate PROG