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GENATLAS PHENOTYPE |
last update : 17-09-2010 |
Symbol | FTD3 |
Location | 3p11.2 |
Name | frontotemporal dementia, chromosome 3-linked |
Other name(s) | dementia, familial nonspecific |
Corresponding gene | CHMP2B |
Other symbol(s) | DMT1, DEM |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | neurology |
Type | disease |
Gene product |
Name | chromatin modifying protein 2B |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
| a tranversion mutation, in the conserved acceptor splice site of exon 6, causing a disruption oin the endosomal pathway, mutant accumulated on the outer membrane of the large aberrant bodies
| |
Remark(s) |
. CHMP2B mutants disrupt a late stage of endosomal trafficking: the fusion of endosomes with lysosomes, while protein sorting into intraluminal vesicles is intact (PMID: 20223751))
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Genotype/Phenotype correlations | missense mutation in exon 5 of CHMP2B (Asn143Ser) in a famille with cortical basal degeneration |