Symbol
| DHCR24
| contributors: mct/ - updated : 24-01-2020
|
HGNC name
| 24-dehydrocholesterol reductase
|
HGNC id
| 2859
|
corresponding disease(s)
|
DSMS
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
in brain region affected by Alzheimer disease (AD) | tumoral
|  
|  
| --over
|  
|
overexpressed in adrenocortical adenomas and adrenal cancer cells | constitutional
| somatic mutation
|  
|  
|  
|
missense mutations in desmosterolosis | tumoral
|  
|  
| --over
|  
|
in mucinous cystadenocarcinomas and serous cystadenocarcinomas of the ovary | |
Susceptibility
|
Alzheimer's disease |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
neurology | neurodegenerative | alzheimer | |
pharmacological enhancement of its activity may be a novel Abeta-lowering approach for the treatment of Alzheimer disease |
| | | |