Symbol
| ADRB1
| contributors: mct - updated : 15-09-2016
|
HGNC name
| adrenergic, beta-1-, receptor
|
HGNC id
| 285
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
of 2 transcripts in heart failure | constitutional
|  
|  
| --over
|  
|
in infantile hemangioma (IH) independent of the proliferative or regressive phase | |
Susceptibility
|
to takotsubo cardiomyopathy (TTC) |
Variant & Polymorphism
| no apparent association of the C1165G variant with idiopathic cardiomyopathy |
|
Arg389 predisposing to heart failure, in hypertrophic cardiomyopathy, allele Gly-Gly having protective effect |
|
Arg389Gly influencing the pathophysiology of OAG in Japanese patients |
|
association between TTC phenotype and beta1 adrenoreceptor gene polymorphisms |
|
|
Candidate gene
Marker
Therapy target
| | | |