1.1.1.170: 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)

This is an abbreviated version, for detailed information about 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating), go to the full flat file.

Reaction

a 3beta-hydroxysteroid-4alpha-carboxylate
+
NAD(P)+
=
a 3-oxosteroid
+
CO2
+
NAD(P)H

Synonyms

3beta-hydroxy-4alpha-methylcholestenecarboxylate 3-dehydrogenase (decarboxylating), 3beta-hydroxy-4beta-methylcholestenoate dehydrogenase, 4alpha-carboxylic acid decarboxylase, C-3 sterol dehydrogenase(C-4 decarboxylase), NSDHL, sterol 4alpha-carboxylic decarboxylase, sterol-4alpha-carboxylate 3-dehydrogenase

ECTree

     1 Oxidoreductases
         1.1 Acting on the CH-OH group of donors
             1.1.1 With NAD+ or NADP+ as acceptor
                1.1.1.170 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)

Disease

Disease on EC 1.1.1.170 - 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating) deficiency
Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.
Carcinoma
Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.
Dermatitis, Exfoliative
Expression profile of NSDHL in human peripheral tissues.
Intellectual Disability
Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Neoplasms
Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Nevus
CHILD syndrome without hemidysplasia.
Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets.
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
Targeting epidermal lipids for treatment of Mendelian disorders of cornification.
Placental Insufficiency
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.