(Q24291560)

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Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

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Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency (English)

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cytochrome P450 family 11 subfamily A member 1

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GOA release 2020-03-11

cholesterol monooxygenase (side-chain-cleaving) activity

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GOA release 2020-03-11

adrenal insufficiency

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based on heuristic

inferred from title

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author name string

T Tajima

1

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K Fujieda

2

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N Kouda

3

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J Nakae

4

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W L Miller

5

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language of work or name

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publication date

August 2001

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The Journal of Clinical Endocrinology and Metabolism

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86

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8

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3820-5

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Effects of luteectomy and progesterone replacement therapy in early pregnant patients

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Studies on ACTH action in perfused bovine adrenals: aspects of progesterone as an intermediary in corticosteroidogenesis

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Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease)

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Substrate specificity of adrenocortical cytochrome P-450scc--I. Effect of structural modification of cholesterol side-chain on pregnenolone production

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21-Hydroxylase, a major autoantigen in idiopathic Addison's disease

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An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

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A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

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Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency

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The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

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Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta

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Simultaneous transfection of COS-1 cells with mitochondrial and microsomal steroid hydroxylases: incorporation of a steroidogenic pathway into nonsteroidogenic cells

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Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13

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Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia

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Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families

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Construction and function of fusion enzymes of the human cytochrome P450scc system

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Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha

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T-->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia

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Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia

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Gene structure of human cytochrome P-450(SCC), cholesterol desmolase

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Indispensability of the human corpus luteum in the maintenance of early pregnancy. Luteectomy evidence

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Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years.

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Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

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Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia

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Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene

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Molecular biology of steroid hormone synthesis

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Metabolism of 25-hydroxycholesterol by rat luteal mitochondria and dispersed cells

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Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone

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Why nobody has P450scc (20,22 desmoslase) deficiency

1 reference

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Evidence for deficient 20 -cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia.

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Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein

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based on heuristic

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10.1210/JCEM.86.8.7748

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