Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL 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.D224G the first missense mutation outside of the SERAC1 serine-lipase domain
| Title : First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking - Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| Author(s) : Rodriguez-Garcia ME , Martin-Hernandez E , de Aragon AM , Garcia-Silva MT , Quijada-Fraile P , Arenas J , Martin MA , Martinez-Azorin F |
| Ref : Neurogenetics , 17 :51 , 2016 |
| Abstract : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| ESTHER : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| PubMedSearch : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| PubMedID: 26445863 |
| Gene_locus related to this paper: human-SERAC1 |