DISEASES

Disease-gene associations mined from literature

Literature associating KIRREL3 and selective immunoglobulin deficiency disease

KIRREL3 [ENSP00000435466]

Kin of irregular chiasm-like protein 3; Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target- specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem cells; C2-set domain containing

Synonyms:  KIRREL3,  KIRREL3p,  hKIRREL3,  A0A024R3N5,  B4DT91 ...

Linkouts:  STRING  Pharos  UniProt  OMIM