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1.3.1.94: polyprenol reductase

This is an abbreviated version!
For detailed information about polyprenol reductase, go to the full flat file.

Word Map on EC 1.3.1.94

Reaction

ditrans,polycis-dolichol
+
NADP+
=
ditrans,polycis-polyprenol
+
NADPH
+
H+

Synonyms

DFG10, PPRD, SDR5A3, SRD5A3, steroid 5alpha-reductase type 3

ECTree

     1 Oxidoreductases
         1.3 Acting on the CH-CH group of donors
             1.3.1 With NAD+ or NADP+ as acceptor
                1.3.1.94 polyprenol reductase

Disease

Disease on EC 1.3.1.94 - polyprenol reductase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Breast Neoplasms
Over-expression of SRD5A3 and its prognostic significance in breast cancer.
Cerebellar Ataxia
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Adult phenotype and further phenotypic variability in SRD5A3-CDG.
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5?-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.
ditrans,polycis-undecaprenyl-diphosphate synthase [(2e,6e)-farnesyl-diphosphate specific] deficiency
SRD5A3-CDG: A patient with a novel mutation.
Eye Diseases
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Intellectual Disability
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Malaria
Metabolomics profiling reveals new aspects of dolichol biosynthesis in Plasmodium falciparum.
Neoplasms
A Prognostic Model for Brain Glioma Patients Based on 9 Signature Glycolytic Genes.
Steroid 5 alpha-reductase 3 (SRD5A3) promotes tumor growth and predicts poor survival of human hepatocellular carcinoma (HCC).
polyprenol reductase deficiency
Life with too much polyprenol: polyprenol reductase deficiency.
SRD5A3-CDG: A patient with a novel mutation.
Prostatic Neoplasms
Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.
Role of dutasteride in pre-clinical ETS fusion-positive prostate cancer models.
Retinal Dystrophies
Association of Steroid 5?-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
Vision Disorders
Association of Steroid 5?-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.