Ontology highlight
ABSTRACT:
SUBMITTER: Umemura T
PROVIDER: S-EPMC4942688 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Umemura Takeji T Joshita Satoru S Yamazaki Tomoo T Komatsu Michiharu M Katsuyama Yoshihiko Y Yoshizawa Kaname K Tanaka Eiji E Ota Masao M
Scientific reports 20160711
Autoimmune hepatitis (AIH) and primary biliary cholangitis (PBC) are liver-specific autoimmune conditions that are characterized by chronic hepatic damage and often lead to cirrhosis and hepatic failure. Specifically, the protein tyrosine phosphatase N22 (PTPN22) gene encodes the lymphoid protein tyrosine phosphatase, which acts as a negative regulator of T-cell receptor signaling. A missense single nucleotide polymorphism (SNP) (rs2476601) in PTPN22 has been linked to numerous autoimmune diseas ...[more]