Primary Identifier | MGI:1346319 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 23897 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable interleukin-1 binding activity; protein domain specific binding activity; and signaling adaptor activity. Predicted to be involved in several processes, including granulocyte colony-stimulating factor signaling pathway; positive regulation of macromolecule metabolic process; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to act upstream of or within cell surface receptor signaling pathway. Located in several cellular components, including lamellipodium; mitochondrial matrix; and sarcoplasmic reticulum. Is expressed in coelomic epithelium of testis; ovary; and testis mesenchyme. Human ortholog(s) of this gene implicated in severe congenital neutropenia 3. Orthologous to human HAX1 (HCLS1 associated protein X-1). PHENOTYPE: Mice homozygous for deletion of this gene fail to survive beyond 14 weeks of age. Apoptosis of neurons in the striatum and cerebellum occurs as does loss of lymphocytes and neutrophiles. [provided by MGI curators] |