Disease-gene associations mined from literature

Literature associating RASGRP1 and leukocyte adhesion deficiency 3

RASGRP1 [ENSP00000310244]

Calcium and DAG-regulated guanine nucleotide exchange factor II; Functions as a calcium- and diacylglycerol (DAG)- regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. Activates the Erk/MAP kinase cascade. Regulates T-cell/B-cell development, homeostasis and differentiation by coupling T-lymphocyte/B- lymphocyte antigen receptors to Ras. Regulates NK cell cytotoxicity and ITAM- dependent cytokine production by activation of Ras-mediated ERK and JNK pathways. Functions in mast cell degranulation and cytokine secretion, regulating FcERI-evoked allergic responses (By similarity). May also function in differentiation of other cell types; Belongs to the RASGRP family.

Synonyms:  RASGRP1,  RASGRP1p,  hRASGRP1,  F5H514,  H0YKM0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM