A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.
Nat Genet
; 36(4): 337-8, 2004 Apr.
Article
em En
| MEDLINE
| ID: mdl-15004560
ABSTRACT
We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue involved in association of LYP with the negative regulatory kinase Csk. Unlike the variant encoded by the more common allele 1858C, the variant associated with T1D does not bind Csk.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Tirosina Fosfatases
/
Diabetes Mellitus Tipo 1
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article