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 1 - 10 of 75 in total
DO ID Disease Name Source
DOID:0050328 congenital hypothyroidism
DOID:0050428 nonepidermolytic palmoplantar keratoderma
DOID:0050429 Hailey-Hailey disease
DOID:0050570 congenital disorder of glycosylation type I
DOID:0050753 cerebellar ataxia
DOID:0050807 Kahrizi syndrome
DOID:0060320 inguinal hernia
DOID:0060762 restrictive dermopathy
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0060862 mal de Meleda
The Human Phenotype Ontology
Displaying entries 1 - 10 of 64 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000248 Brachycephaly
HP:0000316 Hypertelorism
HP:0000329 Facial hemangioma
HP:0000365 Hearing impairment
HP:0000369 Low-set ears
HP:0000414 Bulbous nose
HP:0000431 Wide nasal bridge
HP:0000510 Rod-cone dystrophy
HP:0000518 Cataract
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