Gene Locus : human-SPG21
Mode of mutation : Natural mutant
Disease : Mast Syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : P. T201NfsX11 Thr201AsnfsTer11 c.601insA Maspardin-ACP33-SPG21 is mutated in Mast syndrome (Cross and McKusick 1967, Simpson et al 2003)\; In an Ohio Amish isolate, Cross and McKusick (1967) found 20 cases of a recessively inherited form of presenile dementia, which they termed Mast syndrome rs387906275
| Title : Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia - Simpson_2003_Am.J.Hum.Genet_73_1147 |
| Author(s) : Simpson MA , Cross H , Proukakis C , Pryde A , Hershberger R , Chatonnet A , Patton MA , Crosby AH |
| Ref : American Journal of Human Genetics , 73 :1147 , 2003 |
| Abstract : Simpson_2003_Am.J.Hum.Genet_73_1147 |
| ESTHER : Simpson_2003_Am.J.Hum.Genet_73_1147 |
| PubMedSearch : Simpson_2003_Am.J.Hum.Genet_73_1147 |
| PubMedID: 14564668 |
| Gene_locus related to this paper: human-SPG21 |
| Title : The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances - |
| Author(s) : Cross HE , McKusick VA |
| Ref : Archives of Neurology , 16 :1 , 1967 |
| PubMedID: 6024251 |
| Gene_locus related to this paper: human-SPG21 |