Symbol
| CALB2
| contributors: mct - updated : 03-06-2015
|
HGNC name
| calbindin 2, 29kDa (calretinin)
|
HGNC id
| 1435
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
in the large striatal interneurons of Huntington disease (HD) | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
| CALB2 and MAP2 are useful diagnostic markers for diagnosing Hirschsprung disease in rectal suction biopsies | |
can serve as a marker of the intermediate olfactory receptor neurons (ORNs) | Therapy target
|
System | Type | Disorder | Pubmed |
neurology | neurodegenerative | huntington chorea | |
may be a potential therapeutic target for treatment of Hunington disease | cancer | lung | | |
highly interesting new putative therapeutic target for mesothelioma treatment of especially the epithelioid, as well as of the mixed and sarcomatoid type |
| | |