DISEASES

Disease-gene associations mined from literature

Literature associating KIRREL and progressive myoclonus epilepsy 4

KIRREL [ENSP00000352138]

Kin of irregular chiasm-like protein 1; Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity); Belongs to the immunoglobulin superfamily.

Synonyms:  KIRREL,  B4DN67,  KIRREL1,  Q5W0F9,  Q5W0G0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM