Format

Send to

Choose Destination
Nat Genet. 2004 Apr;36(4):337-8. Epub 2004 Mar 7.

A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.

Author information

1
Program of Signal Transduction, Cancer Research Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.

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.

PMID:
15004560
DOI:
10.1038/ng1323
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center