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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SRD5A3
steroid 5 alpha-reductase 3
Chromosome 4 Β· 4q12
NCBI Gene: 79644Ensembl: ENSG00000128039.13HGNC: HGNC:25812UniProt: A0A7P0TBH6
27PubMed Papers
22Diseases
2Drugs
23Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
dolichyl monophosphate biosynthetic processendoplasmic reticulum membraneoxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activitySRD5A3-congenital disorder of glycosylationKahrizi syndromecongenital disorder of glycosylationbenign prostatic hyperplasia
✦AI Summary

SRD5A3 encodes polyprenal reductase, a multifunctional oxidoreductase with dual roles in glycosylation and androgen metabolism. Primarily, SRD5A3 catalyzes the second step of dolichol biosynthesis by reducing polyprenol to dolichol in an NADP-dependent mechanism 1. Dolichols are essential lipid carriers for activated sugars and oligosaccharide precursors required for N-linked glycosylation 21. SRD5A3 also possesses steroid 5Ξ±-reductase activity, converting testosterone to 5Ξ±-dihydrotestosterone 34. Pathogenic variants in SRD5A3 cause SRD5A3-CDG (congenital disorder of glycosylation type I), an autosomal recessive disorder characterized by defective N-linked glycosylation 5. Affected patients exhibit multisystem involvement including psychomotor disability, cerebellar ataxia, visual impairment with nystagmus and optic neuropathy, skeletal anomalies, and variable hepatic dysfunction 67. N-glycoproteomic analysis of patient fibroblasts reveals widespread decreases in glycosylated proteins, particularly high-mannose and complex glycopeptides, alongside disrupted lysosomal and mitochondrial function 5. Cardiac complications including cardiomyopathy have been documented in SRD5A3-CDG patients 8. Beyond Mendelian disease, elevated SRD5A3 expression promotes hepatocellular carcinoma and triple-negative breast cancer growth and predicts poor survival 910.

Sources cited
1
Primarily, SRD5A3 catalyzes the second step of dolichol biosynthesis by reducing polyprenol to dolichol in an NADP-dependent mechanism .
PMID: 38821050
2
Pathogenic variants in SRD5A3 cause SRD5A3-CDG (congenital disorder of glycosylation type I), an autosomal recessive disorder characterized by defective N-linked glycosylation .
PMID: 39360848
3
Cardiac complications including cardiomyopathy have been documented in SRD5A3-CDG patients .
PMID: 37239976
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
SRD5A3-congenital disorder of glycosylationOpen Targets
0.83Strong
Kahrizi syndromeOpen Targets
0.74Strong
congenital disorder of glycosylationOpen Targets
0.73Strong
benign prostatic hyperplasiaOpen Targets
0.60Moderate
prostate carcinomaOpen Targets
0.56Moderate
prostate cancerOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
alopeciaOpen Targets
0.48Moderate
androgenetic alopeciaOpen Targets
0.47Moderate
prostate neoplasmOpen Targets
0.46Moderate
Abnormality of the nervous systemOpen Targets
0.45Moderate
neoplasmOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.41Moderate
congenital disorder of glycosylation type IOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.34Weak
retinopathyOpen Targets
0.34Weak
Abnormal optic nerve morphologyOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.33Weak
autismOpen Targets
0.33Weak
cone dystrophyOpen Targets
0.33Weak
Congenital disorder of glycosylation 1QUniProt
Kahrizi syndromeUniProt
Pathogenic Variants23
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter)Pathogenic
SRD5A3-congenital disorder of glycosylation;Kahrizi syndrome|SRD5A3-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 162
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter)Pathogenic
SRD5A3-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 107
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)Pathogenic
not provided|SRD5A3-congenital disorder of glycosylation|Congenital disorder of glycosylation|Autism;Global developmental delay;Cone dystrophy|Kahrizi syndrome|Abnormality of the nervous system|SRD5A3-related disorder|Retinal disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 19
NM_024592.5(SRD5A3):c.697+1G>CPathogenic
SRD5A3-congenital disorder of glycosylation|Autosomal recessive SRD5A3-related disorders|Kahrizi syndrome
β˜…β˜…β˜†β˜†2025
NM_024592.5(SRD5A3):c.645_670del (p.His216fs)Pathogenic
not provided|Autosomal recessive SRD5A3-related disorders|Abnormal optic nerve morphology
β˜…β˜…β˜†β˜†2025β†’ Residue 216
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter)Pathogenic
not provided|Inborn genetic diseases|Congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024β†’ Residue 201
NM_024592.5(SRD5A3):c.592C>T (p.Gln198Ter)Pathogenic
SRD5A3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 198
NM_024592.5(SRD5A3):c.653del (p.Tyr218fs)Likely pathogenic
SRD5A3-congenital disorder of glycosylation;Kahrizi syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 218
NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter)Pathogenic
SRD5A3-congenital disorder of glycosylation|Kahrizi syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 96
NM_024592.5(SRD5A3):c.445_446dup (p.Val150fs)Likely pathogenic
SRD5A3-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 150
NM_024592.5(SRD5A3):c.176dup (p.Pro60fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 60
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter)Pathogenic
SRD5A3-congenital disorder of glycosylation|Abnormality of the nervous system
β˜…β˜†β˜†β˜†2021β†’ Residue 142
NM_024592.5(SRD5A3):c.698-1G>ALikely pathogenic
Abnormality of the nervous system
β˜…β˜†β˜†β˜†2021
NM_024592.5(SRD5A3):c.279C>A (p.Cys93Ter)Pathogenic
SRD5A3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2021β†’ Residue 93
NM_024592.5(SRD5A3):c.617G>T (p.Gly206Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 206
NM_024592.5(SRD5A3):c.66del (p.Thr23fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 23
NM_024592.5(SRD5A3):c.744T>G (p.Phe248Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 248
NM_024592.5(SRD5A3):c.364G>T (p.Gly122Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 122
NM_024592.5(SRD5A3):c.50_60del (p.Ala17fs)Pathogenic
SRD5A3-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†β†’ Residue 17
NM_024592.5(SRD5A3):c.921G>C (p.Pro307=)Likely pathogenic
Congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2016β†’ Residue 307
View on ClinVar β†—
Drug Targets2
ABIRATERONEApproved
Androgen Receptor antagonist
prostate cancer
DUTASTERIDEApproved
Steroid 5-alpha-reductase inhibitor
androgenetic alopecia
Related Genes
AKR1C2Protein interaction96%CYP11B1Protein interaction95%CYP11B2Protein interaction95%CYP17A1Protein interaction95%CYP19A1Protein interaction95%HSD3B1Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Heart
72%
Lung
70%
Liver
68%
Bone Marrow
51%
Ovary
22%
Gene Interaction Network
Click a node to explore
SRD5A3AKR1C2CYP11B1CYP11B2CYP17A1CYP19A1HSD3B1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H8P0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.52–1.00]
RankingsWhere SRD5A3 stands among ~20K protein-coding genes
  • #12,684of 20,598
    Most Researched27
  • #690of 1,025
    FDA-Approved Drug Targets2
  • #2,075of 5,498
    Most Pathogenic Variants23
  • #9,737of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedSRD5A3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
PMID: 38821050
Cell Β· 2024
1.00
2
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci Β· 2023
0.90
3
N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.
PMID: 39360848
Glycobiology Β· 2024
0.80
4
SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
PMID: 36597345
J Coll Physicians Surg Pak Β· 2022
0.70
5
PMID: 20301507
0.60