autosomal recessive, autosome, autosomal, recessive, inheritance, mendelian inheritance, genetics, dominant, autosomal dominant, sex-linked, sex-linked dominant, sex-linked recessive, homozygous, homozygote, heterozygous, heterozygote, XX, XY, 46,XX, 46,XY, 46, XX, 46, XY,
Leydig cell, sperm, spermatogonium, sertoli cell, wolffian duct, mullerian duct, mullerian inhibiting factor, mullerian inhibiting hormone,antimullerian hormone, müllerian duct, endocrine disruptor
theca, theca cell, granulosa, granulosa cell, follicle
5-alpha-reductase deficiency, true hermaphroditism, hermaphroditism, hermaphrodite, pseudohermaphroditism, gonadal dysgenesis, mixed gonadal dysgenesis, testicular dysgenesis
inborn error of metabolism, inborn errors of metabolism (RED), congenital metabolic disease, congenital metabolic disorder, fatty acid oxidation disorder, organic acidosis, organic aciduria, urine organic acids, disorder of organic acid metabolism, plasma amino acids, urine amino acids, amino acid disorder, disorder of amino acid metabolism, aminoacidopathy
intrauterine growth retardation, intrauterine growth restriction, body building, IGF1
[1] gck link Marseilles group
[2] ppt templates
The bifunctional enzyme performs two catalytic roles: as phosphofructokinase-2, it phosphorylates fructose-6-phosphate (F6P) to fructose-2,6-bisphosphate (F2,6P2), while as fructose-2,6-bisphosphatase it dephosphorylates F2,6P2 to F6P. Phosphorylation of the enzyme itself converts it from phosphofructokinase activity to phosphatase activity.
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CLASS/Name | property a | Enzyme(s) | Gene location | Substrate(s) | Product(s) |
21-hydroxylase CAH | Online Mendelian Inheritance in Man (OMIM): 201910 | P450c21 | 6p21.1 | 17OH-progesterone→ progesterone→ |
11-deoxycortisol DOC |
lipoid CAH (20,22-desmolase) |
Online Mendelian Inheritance in Man (OMIM): 201710 | StAR P450scc |
8p11.2 15q23-q24 |
transport of cholesterol cholesterol→ |
into mitochondria pregnenolone |
17α-hydroxylase CAH | Online Mendelian Inheritance in Man (OMIM): 202110 | P450c17 | 10q24.3 | pregnenolone→ progesterone→ 17OH-pregnenolone→ |
17OH-pregnenolone 17OH-progesterone DHEA |
3β-HSD CAH | Online Mendelian Inheritance in Man (OMIM): 201810 | 3βHSD II | 1p13 | pregnenolone→ 17OH-pregnenolone→ DHEA→ |
progesterone 17OH-progesterone androstenedione |
11β-hydroxylase CAH | Online Mendelian Inheritance in Man (OMIM): 202010 | P450c11β | 8q21-22 | 11-deoxycortisol→ DOC→ |
cortisol corticosterone |
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