DISEASES

Disease-gene associations mined from literature

Literature associating JAM3 and pseudo-TORCH syndrome 1

JAM3 [ENSP00000299106]

Junctional adhesion molecule C; Junctional adhesion protein that mediates heterotypic cell- cell interactions with its cognate receptor JAM2 to regulate different cellular processes . Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 . Plays a central role in leukocytes extravasation by facilitating transmigration through the endothelium (By similarity). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as a counter- receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) . Plays a role in angiogenesis . Plays a role in the regulation of cell migration (Probable). During myogenesis, it is involved in myocyte fusion (By similarity). ECO:0000269|PubMed:11590146, ECO:0000269|PubMed:11823489, ECO:0000269|PubMed:12208882, ECO:0000269|PubMed:15194813, ECO:0000269|PubMed:23255084, ECO:0000269|PubMed:24357068,; Belongs to the immunoglobulin superfamily.

Synonyms:  JAM3,  JAM3p,  hJAM3,  H0YCW9,  H0YD98 ...

Linkouts:  STRING  Pharos  UniProt