Cloned (Comment) | Organism |
---|---|
gene CYP11B1, DNA and aamino acid sequence determination of wild-type and mutant genes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L489S | naturally occuring mutation from homozygous patients, non-classical congenital adrenal hyperplasia clinical phenotype, that cosegregates, with early pubic hair development and infertility, genotyping and phenotyping of a Turkish family | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | non-classical enzyme deficiency causes mild androgen excess, hirsutism, precocious adrenarche and accelerated growth in children, missense mutations are responsible for non-classical adrenal hyperplasia in children, overview | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | non-classical enzyme deficiency causes mild androgen excess, hirsutism, precocious adrenarche and accelerated growth in children, missense mutations are responsible for non-classical adrenal hyperplasia in children, overview | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
CYP11B1 | - |
Homo sapiens |