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GENATLAS PHENOTYPE |
last update : 11-10-2010 |
Symbol | FANCJ |
Location | 17q23.2 |
Name | Fanconi anemia, complementation groupe J |
Corresponding gene | BRIP1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | hematology |
osteo-articular | |
Type | chromosomal instability syndrome |
Gene product |
Name | BRCA1-interacting helicase |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
|  
| truncated protein
| in exon 7, affecting the helicase motif 6
| |
Remark(s) |
|
Genotype/Phenotype correlations | heterozygosity for FANCJ/BRIP1 mutations is associated with an increased susceptibility to breast cancer |