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GENATLAS PHENOTYPE |
last update : 05-06-2012 |
Symbol | USH1B |
Location | 11q13.5 |
Name | Usher syndrome, type IB |
Other name(s) | myosin, unconventional, family VII, member A |
Corresponding gene | MYO7A |
related resource | Genetics hearing impairment
Retinal Information Network |
Other symbol(s) | MYU7A |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | ear |
eye | |
Type | disease |
Gene product |
Name | myosin VIIA (MYO7A) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
|  
| |
Remark(s) | . missense mutations of USH1B significantly inhibited the actin activation of ATPase activity of myosin VIIa, and cause the complete loss of the actin-activated ATPase activity or the reduction of duty ratio of myosin VIIa (PMID: 18700726)) |