| Symbol
| CAMTA1
| contributors: mct - updated : 01-03-2017
|
| HGNC name
| calmodulin binding transcription activator 1
|
| HGNC id
| 18806
|
| corresponding disease(s)
|
CANPMR
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
| fusion
|
|
|
|
WWTR1-CAMTA1 fusion in all epithelioid hemangioendothelioma tested from bone, soft tissue, and visceral location (liver, lung) in keeping with a unique and specific pathological entity  | | tumoral
|
|
| --low
|
| |
independent predictor of poor outcome in neuroblastoma patients | | tumoral
|
| translocation
|
|
| |
with TFE3 in Epithelioid hemangioendotheliomas | |
| Susceptibility
|
to coronary artery disease (CAD) and periodontitis to Sporadic Amyotrophic Lateral Sclerosis |
| Variant & Polymorphism
other
| risk alleles in the genes CDKN2B-AS1, CAMTA1 and PLG that are shared between coronary artery disease (CAD) and periodontitis |
|
rs2412208 associated with longer survival |
| 
|
Candidate gene
| Marker
| presence of WWTR1-CAMTA1 fusion may serve as a useful molecular diagnostic tool in challenging diagnoses | |
nuclear CAMTA1 expression is sensitive and highly specific for epithelioid haemangioendothelioma (EHE) and can be applied to diagnostic immunohistochemistry in epithelioid tumours | Therapy target
|
| | |
|
| global or nervous system deletion of Camta1 in mice causes severe ataxia with Purkinje cell degeneration and cerebellar atrophy, partially resembling the consequences of haploinsufficiency of the human Camta1 locus |