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 : Q279X p.Gln279Stop NM_021160: c.835C>T. Homozygous ABHD16A nonsense variant in two affected children in a Chilean family. Mutation in in exon 9 of 20 coding exons, likely leading to nonsense-mediated mRNA decay
| Title : A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face - Miyake_2021_Clin.Genet__ |
| Author(s) : Miyake N , Silva S , Troncoso M , Okamoto N , Andachi Y , Kato M , Iwabuchi C , Hirose M , Fujita A , Uchiyama Y , Matsumoto N |
| Ref : Clin Genet , : , 2021 |
| Abstract : Miyake_2021_Clin.Genet__ |
| ESTHER : Miyake_2021_Clin.Genet__ |
| PubMedSearch : Miyake_2021_Clin.Genet__ |
| PubMedID: 34866177 |
| Gene_locus related to this paper: human-ABHD16A |