Primary Identifier | MGI:96242 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 15510 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables lipopolysaccharide binding activity. Involved in positive regulation of T cell activation and positive regulation of type II interferon production. Acts upstream of or within T cell activation; cellular response to interleukin-7; and positive regulation of interferon-alpha production. Located in migrasome; secretory granule; and sperm plasma membrane. Is active in mitochondrion. Is expressed in several structures, including brain; eye; heart; and urinary system. Used to study hereditary spastic paraplegia 13. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); autistic disorder; glucose intolerance; hereditary spastic paraplegia (multiple); and hypomyelinating leukodystrophy 4. Orthologous to human HSPD1 (heat shock protein family D (Hsp60) member 1). PHENOTYPE: Mice homozygous for a gene-trap allele exhibit embryonic lethality between E7.5 and E9.75 associated with growth retardation. Males heterozygous for a gene-trap allele produce fewer female offspring than expected. Heterozygotes develop a slowly progressive motor defect resembling spastic paraplegia. [provided by MGI curators] |