Gene Locus : human-DAGLB
Mode of mutation : Natural mutant
Disease : Parkinson disease, autosomal recessive (ARPD) early-onset (EOPD)
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 :
c.1821-2A>G one homozygous splice-site mutation residing in intron 14 of DAGLB disrupt the donor splice site of exon 15
| Title : Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction - Liu_2022_Nat.Commun_13_3490 |
| Author(s) : Liu Z , Yang N , Dong J , Tian W , Chang L , Ma J , Guo J , Tan J , Dong A , He K , Zhou J , Cinar R , Wu J , Salinas AG , Sun L , Kumar M , Sullivan BT , Oldham BB , Pitz V , Makarious MB , Ding J , Kung J , Xie C , Hawes SL , Wang L , Wang T , Chan P , Zhang Z , Le W , Chen S , Lovinger DM , Blauwendraat C , Singleton AB , Cui G , Li Y , Cai H , Tang B |
| Ref : Nat Commun , 13 :3490 , 2022 |
| Abstract : |
| PubMedSearch : Liu_2022_Nat.Commun_13_3490 |
| PubMedID: 35715418 |
| Gene_locus related to this paper: human-DAGLB , mouse-DGLB |