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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


[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.

File:Ape shaking head.gif

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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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