Gene Locus : human-ABHD16A
Mode of mutation : Natural mutant
Disease : Hereditary spastic paraplegia (HSP) ABHD16A
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 :
R445X p.Arg445Ter NM_001177515.2:c.1234C>T (NP_001170986.1): This variant was identified in trans Compound heterozygote with another ABHD16A variant (c.573delG) in an individual affected with a complex form of hereditary spastic paraplegia.
| Title : ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies - Lemire_2021_Am.J.Hum.Genet__ |
| Author(s) : Lemire G , Ito YA , Marshall AE , Chrestian N , Stanley V , Brady L , Tarnopolsky M , Curry CJ , Hartley T , Mears W , Derksen A , Rioux N , Laflamme N , Hutchison HT , Pais LS , Zaki MS , Sultan T , Dane AD , Gleeson JG , Vaz FM , Kernohan KD , Bernard G , Boycott KM |
| Ref : American Journal of Human Genetics , : , 2021 |
| Abstract : |
| PubMedSearch : Lemire_2021_Am.J.Hum.Genet__ |
| PubMedID: 34587489 |
| Gene_locus related to this paper: human-ABHD16A |