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 31 - 40 of 75 in total
DO ID Disease Name Source
DOID:10629 microphthalmia
DOID:11252 microcytic anemia
DOID:11541 recurrent corneal erosion
DOID:11634 myxedema
DOID:11771 spontaneous ocular nystagmus
DOID:11832 visual epilepsy
DOID:11949 Creutzfeldt-Jakob disease
DOID:12270 coloboma
DOID:12849 autistic disorder
DOID:13072 acquired hyperkeratosis
The Human Phenotype Ontology
Displaying entries 41 - 50 of 64 in total
HPO ID HPO Term
HP:0001976 Reduced antithrombin III activity
HP:0001999 Abnormal facial shape
HP:0002015 Dysphagia
HP:0002126 Polymicrogyria
HP:0002334 Abnormal cerebellar vermis morphology
HP:0002808 Kyphosis
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0002942 Thoracic kyphosis
HP:0003186 Inverted nipples
HP:0003577 Congenital onset
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