Primary Identifier | MGI:1328352 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 20400 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein-macromolecule adaptor activity. Acts upstream of or within humoral immune response and positive regulation of natural killer cell mediated cytotoxicity. Predicted to be located in cytoplasm. Is expressed in retina. Used to study X-linked lymphoproliferative syndrome 1. Human ortholog(s) of this gene implicated in X-linked lymphoproliferative syndrome 1. Orthologous to human SH2D1A (SH2 domain containing 1A). PHENOTYPE: Mice homozygous for disruptions in this gene display various immune system abnormalities. [provided by MGI curators] |