1.3.1.94: polyprenol reductase
This is an abbreviated version!
For detailed information about polyprenol reductase, go to the full flat file.
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Word Map on EC 1.3.1.94
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1.3.1.94
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dolichols
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polyprenols
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pmm2-cdg
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atp6v0a2
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cis-prenyltransferase
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coloboma
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alpha-dihydrotestosterone
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srd5as
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medicine
- 1.3.1.94
- dolichols
- polyprenols
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pmm2-cdg
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atp6v0a2
- cis-prenyltransferase
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coloboma
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alpha-dihydrotestosterone
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srd5as
- medicine
Reaction
Synonyms
DFG10, PPRD, SDR5A3, SRD5A3, steroid 5alpha-reductase type 3
ECTree
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Disease
Disease on EC 1.3.1.94 - polyprenol reductase
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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.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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.
Neoplasms
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.
Prostatic Neoplasms
Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer.
Prostatic Neoplasms
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.
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