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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.

Word Map on EC 1.1.1.170

Reaction

3beta-hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate
+
NAD(P)+
=
4alpha-methyl-5alpha-cholest-7-en-3-one
+
CO2
+
NAD(P)H
+
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), Erg26, Erg26p, NSDHL, sterol 4alpha-carboxylic decarboxylase, sterol-4-alpha-carboxylate 3-dehydrogenase, sterol-4-alpha-carboxylate-3-dehydrogenase, 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.
Abscess
Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus.
Brain Diseases
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Breast Neoplasms
NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis.
NSDHL promotes triple-negative breast cancer metastasis through the TGF? signaling pathway and cholesterol biosynthesis.
Carcinoma
A New Survival Model Based on Cholesterol Biosynthesis-Related Genes for Prognostic Prediction in Clear Cell Renal Cell Carcinoma.
Cholesterol Pathway Inhibition Induces TGF-? Signaling to Promote Basal Differentiation in Pancreatic Cancer.
Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.
Dermatitis, Exfoliative
Expression profile of NSDHL in human peripheral tissues.
Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.
Hypoventilation
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
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.
Muscular Diseases
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Neoplasm Metastasis
NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis.
NSDHL promotes triple-negative breast cancer metastasis through the TGF? signaling pathway and cholesterol biosynthesis.
Neoplasms
Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity.
Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.
NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis.
NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.
NSDHL promotes triple-negative breast cancer metastasis through the TGF? signaling pathway and cholesterol biosynthesis.
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Nevus
A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.
CHILD syndrome without hemidysplasia.
Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi.
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.
NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.
Targeting epidermal lipids for treatment of Mendelian disorders of cornification.
Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus.
Placental Insufficiency
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.
Psoriasis
Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus.
Stomach Neoplasms
NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.
Triple Negative Breast Neoplasms
NSDHL promotes triple-negative breast cancer metastasis through the TGF? signaling pathway and cholesterol biosynthesis.
Xanthomatosis
Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.