Symbol
| CRB2
| contributors: mct - updated : 29-05-2014
|
HGNC name
| crumbs homolog 2 (Drosophila)
|
HGNC id
| 18688
|
corresponding disease(s)
|
SRN5
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
|  
|
in cerebral, renal, and cardiac malformations ( | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| deletion of Crb2 in the murine retina results in early retinal disorganization leading to severe and progressive retinal degeneration with a concomitant visual loss that mimics retinitis pigmentosa due to mutations in the CRB1 gene | |
severe abnormalities appearing in Crb2-deficient mice embryos at late-gastrulation |