User:Alteripse/workshop2
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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
- epiphyseal closure, growth evaluation, short stature, growth failure, constitutional delay, height, stature, failure to thrive
- developmental delay, mental retardation
- pediatric endocrinologist, pharmaceutical company, pharmacologic dose, physiologic dose, quality of life, standard of care, isoenzyme,
[1] (http://bip.cnrs-mrs.fr/bip10/glucokin.htm) gck link Marseilles group
[2] (http://www.brainybetty.com/sitemap.htm) 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 | Template:OMIM | P450c21 | 6p21.1 | 17OH-progesterone→ progesterone→ | 11-deoxycortisol DOC |
| lipoid CAH (20,22-desmolase) | Template:OMIM | StAR P450scc | 8p11.2 15q23-q24 | transport of cholesterol cholesterol→ | into mitochondria pregnenolone |
| 17α-hydroxylase CAH | Template:OMIM | P450c17 | 10q24.3 | pregnenolone→ progesterone→ 17OH-pregnenolone→ | 17OH-pregnenolone 17OH-progesterone DHEA |
| 3β-HSD CAH | Template:OMIM | 3βHSD II | 1p13 | pregnenolone→ 17OH-pregnenolone→ DHEA→ | progesterone 17OH-progesterone androstenedione |
| 11β-hydroxylase CAH | Template:OMIM | P450c11β | 8q21-22 | 11-deoxycortisol→ DOC→ | cortisol corticosterone |
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