PathWhiz

Pathway Description

11-beta-Hydroxylase Deficiency (CYP11B1)

Rattus norvegicus

Disease Pathway

11-beta-Hydroxylase Deficiency, also called congenital adrenal hyperplasia (CAH), is an autosomal recessive disorder and caused by a defective 11-beta-hydroxylase. 11-beta-hydroxylase catalyzes the conversion of cortexolone into cortisol which is useful for maintaining blood sugar levels and suppressing inflammation. This disorder is characterized by a large accumulation of cortexolone in the endoplasmic reticulum (ER). Symptoms of the disorder include abnormality of hair growth rate and menstrual cycle. It is estimated that 11-beta-hydroxylase deficiency affects 1 in 100,000 to 200,000 newborns.

References

11-beta-Hydroxylase Deficiency (CYP11B1) References

Mantero F, Opocher G, Armanini D, Filipponi S: 11 Beta-hydroxylase deficiency. J Endocrinol Invest. 1995 Jul-Aug;18(7):545-9.

Pubmed: 9221273

Mullins LJ, Peter A, Wrobel N, McNeilly JR, McNeilly AS, Al-Dujaili EA, Brownstein DG, Mullins JJ, Kenyon CJ: Cyp11b1 null mouse, a model of congenital adrenal hyperplasia. J Biol Chem. 2009 Feb 6;284(6):3925-34. doi: 10.1074/jbc.M805081200. Epub 2008 Nov 24.

Pubmed: 19029289

Steroidogenesis References

This pathway was propagated using PathWhiz - Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.

Propagated from PW000551

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Visualize Compound Data

		11-Dehydrocorticosterone
		11b,17a,21-Trihydroxypreg-nenolone
		11b,21-Dihydroxy-3,20-oxo-5b-pregnan-18-al
		11b,21-Dihydroxy-5b-pregnane-3,20-dione
		11b-Hydroxyprogesterone
		17-Hydroxyprogesterone
		17a,20a-Dihydroxycholesterol
		17a,21-Dihydroxy-5b-pregnane-3,11,20-trione
		17a-Hydroxypregnenolone
		17α,21-Dihydroxypregnenolone
		18-Hydroxycorticosterone
		20a,22b-Dihydroxycholesterol
		20α-Hydroxycholesterol
		21-Deoxycortisol
		21-Hydroxy-5b-pregnane-3,11,20-trione
		21-Hydroxypregnenolone
		22b-Hydroxycholesterol
		3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al
		3a,21-Dihydroxy-5b-pregnane-11,20-dione
		3a-Hydroxy-5b-pregnane-20-one
		4-Methylpentanal
		5a-Pregnane-3,20-dione
		Aldosterone
		Cholesterol
		Cortexolone
		Corticosterone
		Cortisol
		Cortisone
		Deoxycorticosterone
		Dihydrocortisol
		Heme
		NAD
		NADH
		NADP
		NADPH
		Oxygen
		Pregnenolone
		Progesterone
		Tetrahydrocorticosterone
		Tetrahydrocortisol
		Tetrahydrocortisone
		Water

Visualize Protein Data

		3 beta-hydroxysteroid dehydrogenase type 5
		3-alpha-hydroxysteroid dehydrogenase
		3-oxo-5-beta-steroid 4-dehydrogenase
		Cholesterol side-chain cleavage enzyme, mitochondrial
		Corticosteroid 11-beta-dehydrogenase isozyme 1
		Corticosteroid 11-beta-dehydrogenase isozyme 2
		Cytochrome P450 11B3, mitochondrial
		Steroid 17-alpha-hydroxylase/17,20 lyase
		Steroid 21-hydroxylase

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