steroid 5 alpha-reductase 3

Summary
Gene Symbol
  • SRD5A3
Aliases
  • 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))
  • FLJ13352
  • SRD5A2L
  • SRD5A2L1
  • polyprenol reductase
Organism
Homo sapiens (human)
External Links
NCBI Gene
79644
HGNC
25812
KEGG Gene ID
hsa:79644
PubChem
79644
Alliance of Genome Resources
Annotation
Keyword
  • Cataract
  • Congenital disorder of glycosylation
  • Endoplasmic reticulum
  • Intellectual disability
  • Lipid metabolism
  • NADP
  • Oxidoreductase
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9H8P0
  • 3-oxo-5-alpha-steroid 4-dehydrogenase 3
  • Steroid 5-alpha-reductase 2-like
  • Steroid 5-alpha-reductase 3
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K12345
Name
3-oxo-5-alpha-steroid 4-dehydrogenase 3 / polyprenol reductase [EC:1.3.1.22 1.3.1.94]
References
Disease
Disease Ontology
Displaying entries 71 - 75 of 75 in total
DO ID Disease Name Source
DOID:8501 fundus dystrophy
DOID:8927 learning disability
DOID:9649 congenital nystagmus
DOID:9650 pathologic nystagmus
DOID:9923 developmental coordination disorder
The Human Phenotype Ontology
Displaying entries 11 - 20 of 64 in total
HPO ID HPO Term
HP:0000568 Microphthalmia
HP:0000572 Visual loss
HP:0000589 Coloboma
HP:0000612 Iris coloboma
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000677 Oligodontia
HP:0000821 Hypothyroidism
HP:0000824 Decreased response to growth hormone stimulation test
HP:0000958 Dry skin
Displaying all 3 entries
Disease ID Disease Name
OMIM:612379
  • SRD5A3-congenital disorder of glycosylation
ORPHA:324737
  • SRD5A3-congenital disorder of glycosylation
OMIM:612713
  • Kahrizi syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP003856
Gene Name
steroid 5 alpha-reductase 3

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Acknowledgements

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Last updated: August 19, 2024