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FLASH GENE
Symbol CALB2 contributors: mct - updated : 03-06-2015
HGNC name calbindin 2, 29kDa (calretinin)
HGNC id 1435
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in the large striatal interneurons of Huntington disease (HD)
Susceptibility
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
    SystemTypeDisorderPubmed
    neurologyneurodegenerativehuntington chorea
    may be a potential therapeutic target for treatment of Hunington disease
    cancerlung 
    highly interesting new putative therapeutic target for mesothelioma treatment of especially the epithelioid, as well as of the mixed and sarcomatoid type
    ANIMAL & CELL MODELS