DISEASES

Disease-gene associations mined from literature

Literature associating CD177 and autosomal dominant centronuclear myopathy

CD177 [ENSP00000479536]

CD177 antigen; In association with beta-2 integrin heterodimer ITGAM/CD11b and ITGB2/CD18, mediates activation of TNF-alpha primed neutrophils including degranulation and superoxide production . In addition, by preventing beta-2 integrin internalization and attenuating chemokine signaling favors adhesion over migration . Heterophilic interaction with PECAM1 on endothelial cells plays a role in neutrophil transendothelial migration in vitro . However, appears to be dispensable for neutrophil recruitment caused by bacterial infection in vivo . Acts as a receptor for the mature form of protease PRTN3 allowing its display at the cell surface of neutrophils . By displaying PRTN3 at the neutrophil cell surface, may play a role in enhancing endothelial cell junctional integrity and thus vascular integrity during neutrophil diapedesis . ECO:0000269|PubMed:18462208, ECO:0000269|PubMed:21193407, ECO:0000269|PubMed:23202369, ECO:0000269|PubMed:23461681,

Synonyms:  CD177,  CD177p,  hCD177,  A0A087WVM2,  A0A087X113 ...

Linkouts:  STRING  Pharos  UniProt