Gene Locus : human-CTSA
Mode of mutation : Natural mutant
Disease : Galactosialidosis
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.K453E Lys453Glu (p.K425E Lys425Glu in the mature protein without signal peptide) rs137854549
| Title : Structural and functional study of K453E mutant protective protein\/cathepsin A causing the late infantile form of galactosialidosis - Takiguchi_2000_J.Hum.Genet_45_200 |
| Author(s) : Takiguchi K , Itoh K , Shimmoto M , Ozand PT , Doi H , Sakuraba H |
| Ref : J Hum Genet , 45 :200 , 2000 |
| Abstract : Takiguchi_2000_J.Hum.Genet_45_200 |
| ESTHER : Takiguchi_2000_J.Hum.Genet_45_200 |
| PubMedSearch : Takiguchi_2000_J.Hum.Genet_45_200 |
| PubMedID: 10944848 |
| Gene_locus related to this paper: human-CTSA |