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.Y249N Tyr249Asn (p.Y221N Tyr221Asn in the mature protein without signal peptide) rs137854544
| Title : The atomic model of the human protective protein\/cathepsin A suggests a structural basis for galactosialidosis - Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| Author(s) : Rudenko G , Bonten E , Hol WG , d'Azzo A |
| Ref : Proceedings of the National Academy of Sciences of the United States of America , 95 :621 , 1998 |
| Abstract : |
| PubMedSearch : Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| PubMedID: 9435242 |
| Gene_locus related to this paper: human-CTSA , mouse-Ppgb |
| Title : Molecular and biochemical analysis of protective protein\/cathepsin A mutations: correlation with clinical severity in galactosialidosis - Zhou_1996_Hum.Mol.Genet_5_1977 |
| Author(s) : Zhou XY , van der Spoel A , Rottier R , Hale G , Willemsen R , Berry GT , Strisciuglio P , Morrone A , Zammarchi E , Andria G , d'Azzo A |
| Ref : Hum Mol Genet , 5 :1977 , 1996 |
| Abstract : |
| PubMedSearch : Zhou_1996_Hum.Mol.Genet_5_1977 |
| PubMedID: 8968752 |
| Gene_locus related to this paper: human-CTSA |
| Title : Protective protein gene mutations in galactosialidosis - Shimmoto_1993_J.Clin.Invest_91_2393 |
| Author(s) : Shimmoto M , Fukuhara Y , Itoh K , Oshima A , Sakuraba H , Suzuki Y |
| Ref : J Clinical Investigation , 91 :2393 , 1993 |
| Abstract : |
| PubMedSearch : Shimmoto_1993_J.Clin.Invest_91_2393 |
| PubMedID: 8514852 |
| Gene_locus related to this paper: human-CTSA |
| Title : A new point mutation of protective protein gene in two Japanese siblings with juvenile galactosialidosis. - |
| Author(s) : Fukuhara Y , Takano T , Shimmoto M , Oshima A , Takeda E , Kuroda Y , Sakuraba H , Suzuki Y |
| Ref : Brain Dysfunction , 5 :319 , 1992 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |