aldo-keto reductase family 1 member C4

Summary
Gene Symbol
  • AKR1C4
Aliases
  • 3-alpha hydroxysteroid dehydrogenase, type I
  • 3-alpha-HSD
  • C11
  • CDR
  • DD4
  • HAKRA
  • MGC22581
  • chlordecone reductase
  • dihydrodiol dehydrogenase 4
Organism
Homo sapiens (human)
External Links
NCBI Gene
1109
HGNC
387
KEGG Gene ID
hsa:1109
PubChem
1109
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Cytoplasm
  • Direct protein sequencing
  • Lipid metabolism
  • NADP
  • Oxidoreductase
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
P17516
  • 3-alpha-hydroxysteroid dehydrogenase type I
  • 3alpha-hydroxysteroid 3-dehydrogenase
  • Chlordecone reductase
  • Dihydrodiol dehydrogenase 4
  • HAKRA
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K00037
Name
3alpha-hydroxysteroid 3-dehydrogenase / chlordecone reductase [EC:1.1.1.50 1.1.1.357 1.1.1.225]
References
Rhea
Disease
Disease Ontology
Displaying entries 1 - 10 of 97 in total
DO ID Disease Name Source
DOID:0050012 chikungunya
DOID:0050741 alcohol dependence
DOID:0050801 androgenic alopecia
DOID:0050873 follicular lymphoma
DOID:0060229 Baraitser-Winter syndrome
DOID:0060232 branchiootic syndrome
DOID:0060247 Smith-McCort dysplasia
DOID:0060316 orofaciodigital syndrome I
DOID:0060359 Sakati-Nyhan syndrome
DOID:0060380 orofaciodigital syndrome X
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000037 Male pseudohermaphroditism
HP:0000062 Ambiguous genitalia
HP:0012245 Sex reversal
Displaying 1 entry
Disease ID Disease Name
OMIM:614279
  • 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000718
Gene Name
aldo-keto reductase family 1, member C4

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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