1.3.99.6: 3-oxo-5beta-steroid 4-dehydrogenase

This is an abbreviated version!
For detailed information about 3-oxo-5beta-steroid 4-dehydrogenase, go to the full flat file.

Reaction

Synonyms

3-keto-DELTA4-steroid-5beta-reductase, 3-oxo-5beta-steroid DELTA4-dehydrogenase, 3-oxo-DELTA4-steroid-5beta-reductase, 5beta-reductase, AKR1D1, Aldo-keto reductase family 1 member D1, Delta(4)-3-ketosteroid 5-beta-reductase, DELTA-3-ketosteroid-5beta-reductase, DELTA4-3-ketosteroid-5beta-reductase, DELTA4-3-oxosteroid 5beta-reductase, DELTA4-5beta-DH, steroid 5beta reductase, steroid 5beta-reductase, steroid DELTA-5beta-dehydrogenase, testosterone 5beta-reductase

ECTree

     1 Oxidoreductases

         1.3 Acting on the CH-CH group of donors

             1.3.99 With unknown physiological acceptors

                1.3.99.6 3-oxo-5beta-steroid 4-dehydrogenase

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Results	in table
2	Activating Compound
64	AA Sequence
1	Application
1	CAS Registry Number
2	Cloned(Commentary)
2	Cofactor
54	Disease/ Diagnostics
2	General Stability
5	Inhibitors
1	KM Value [mM]
1	Localization
3	Molecular Weight [Da]
4	Natural Substrates/ Products (Substrates)
9	Organism
2	Oxidation Stability
2	Pathway
4	pH Optimum
1	pH Range
3	Protein Variants
2	Purification (Commentary)
1	Reaction
3	Reaction Type
9	Reference
8	Source Tissue
2	Specific Activity [micromol/min/mg]
2	Storage Stability
25	Substrates and Products (Substrate)
1	Subunits
16	Synonyms
1	Systematic Name
1	Temperature Optimum [°C]
1	Temperature Range [°C]
1	Temperature Stability [°C]

Disease

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Disease on EC 1.3.99.6 - 3-oxo-5beta-steroid 4-dehydrogenase

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DISEASE

TITLE OF PUBLICATION

LINK TO PUBMED

3-oxo-5beta-steroid 4-dehydrogenase deficiency

Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.

20522910

3-oxo-5beta-steroid 4-dehydrogenase deficiency

Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis.

9625335

3-oxo-5beta-steroid 4-dehydrogenase deficiency

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

12970144

3-oxo-5beta-steroid 4-dehydrogenase deficiency

SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.

15030995

3-oxo-5beta-steroid 4-dehydrogenase deficiency

SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta-steroid 5beta-reductase deficiency.

19175828

Carcinoma, Hepatocellular

Bile acids modulate glucocorticoid metabolism and the hypothalamic-pituitary-adrenal axis in obstructive jaundice.

20347173

Carcinoma, Hepatocellular

Proteome analysis of rat hepatomas: carcinogen-dependent tumor-associated protein variants.

11565795

Cholestasis

Bile acids modulate glucocorticoid metabolism and the hypothalamic-pituitary-adrenal axis in obstructive jaundice.

20347173

Cholestasis

Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis.

9625335

Cholestasis

SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta-steroid 5beta-reductase deficiency.

19175828

Essential Hypertension

11beta-hydroxysteroid dehydrogenase type-2 and type-1 (11beta-HSD2 and 11beta-HSD1) and 5beta-reductase activities in the pathogenia of essential hypertension.

19882252

Fatty Liver

Body fat distribution and cortisol metabolism in healthy men: enhanced 5beta-reductase and lower cortisol/cortisone metabolite ratios in men with fatty liver.

14557475

Hepatitis

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

12970144

Hyperandrogenism

Increased clearance of cortisol by 5beta-reductase in a subgroup of women with adrenal hyperandrogenism in polycystic ovary syndrome.

19542736

Liver Diseases

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

12970144

Liver Failure

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

12970144

Non-alcoholic Fatty Liver Disease

Body fat distribution and cortisol metabolism in healthy men: enhanced 5beta-reductase and lower cortisol/cortisone metabolite ratios in men with fatty liver.

14557475

Obesity

Reduced adipose glucocorticoid reactivation and increased hepatic glucocorticoid clearance as an early adaptation to high-fat feeding in Wistar rats.

15550507

Polycystic Ovary Syndrome

Increased clearance of cortisol by 5beta-reductase in a subgroup of women with adrenal hyperandrogenism in polycystic ovary syndrome.

19542736

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