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 61 - 70 of 75 in total
DO ID Disease Name Source
DOID:4028 angioma serpiginosum
DOID:4090 agnosia
DOID:420 hypertrichosis
DOID:483 cavernous hemangioma
DOID:5212 congenital disorder of glycosylation
DOID:5614 eye disease
DOID:5723 optic atrophy
DOID:7378 pituitary hypoplasia
DOID:758 situs inversus
DOID:83 cataract
The Human Phenotype Ontology
Displaying entries 61 - 64 of 64 in total
HPO ID HPO Term
HP:0010864 Intellectual disability, severe
HP:0012443 Abnormal brain morphology
HP:0012471 Thick vermilion border
HP:0030680 Abnormal cardiovascular system morphology
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

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024