user:alteripse/workshop2

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

[http://bip.cnrs-mrs.fr/bip10/glucokin.htm] gck link Marseilles group

[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.

::File:Ape_shaking_head.gif

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| CLASS/Name

| property a

| Enzyme(s)

| Gene location

| Substrate(s)

| Product(s)

21-hydroxylase CAH

| {{OMIM|201910}}

| P450c21

| 6p21.1

| 17OH-progesterone→
progesterone

| 11-deoxycortisol
DOC

lipoid CAH
(20,22-desmolase)

| {{OMIM|201710}}

| StAR
P450scc

| 8p11.2
15q23-q24

| transport of cholesterol
cholesterol

| into mitochondria
pregnenolone

17α-hydroxylase CAH

| {{OMIM|202110}}

| P450c17

| 10q24.3

| pregnenolone
progesterone
17OH-pregnenolone→

| 17OH-pregnenolone
17OH-progesterone
DHEA

3β-HSD CAH

| {{OMIM|201810}}

| 3βHSD II

| 1p13

| pregnenolone
17OH-pregnenolone→
DHEA

| progesterone
17OH-progesterone
androstenedione

11β-hydroxylase CAH

| {{OMIM|202010}}

| P450c11β

| 8q21-22

| 11-deoxycortisol→
DOC→

| cortisol
corticosterone

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