24-dehydrocholesterol reductase

Summary
Gene Symbol
  • DHCR24
Aliases
  • Delta(24)-sterol reductase
  • KIAA0018
  • seladin-1
Organism
Homo sapiens (human)
External Links
NCBI Gene
1718
HGNC
2859
KEGG Gene ID
hsa:1718
PubChem
1718
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cholesterol biosynthesis
  • Disease variant
  • Endoplasmic reticulum
  • FAD
  • Golgi apparatus
  • NADP
  • Oxidoreductase
  • Reference proteome
  • Signal
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q15392
  • 24-dehydrocholesterol reductase
  • 3-beta-hydroxysterol Delta-24-reductase
  • Diminuto/dwarf1 homolog
  • Seladin-1
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000116133

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K09828
Name
Delta24-sterol reductase [EC:1.3.1.72 1.3.1.-]
References
Disease
Disease Ontology
Displaying entries 181 - 190 of 241 in total
DO ID Disease Name Source
DOID:4588 secretory meningioma
DOID:4591 lymphoplasmacyte-rich meningioma
DOID:4594 microcystic meningioma
DOID:4626 hydranencephaly
DOID:4766 embryoma
DOID:4903 granular cell carcinoma
DOID:4905 pancreatic carcinoma
DOID:4929 tubular adenocarcinoma
DOID:5041 esophageal cancer
DOID:5076 mixed glioma
The Human Phenotype Ontology
Displaying entries 21 - 30 of 76 in total
HPO ID HPO Term
HP:0000369 Low-set ears
HP:0000378 Cupped ear
HP:0000463 Anteverted nares
HP:0000486 Strabismus
HP:0000494 Downslanted palpebral fissures
HP:0000639 Nystagmus
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001257 Spasticity
HP:0001263 Global developmental delay
Displaying all 2 entries
Disease ID Disease Name
OMIM:602398
  • desmosterolosis
ORPHA:35107
  • desmosterolosis
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002230
Gene Name
24-dehydrocholesterol reductase

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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