Primary Identifier | MGI:96391 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 15893 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable membrane curvature sensor activity and protein domain specific binding activity. Predicted to be involved in regulation of protein-containing complex assembly and regulation of transport. Located in cytosol and synaptic vesicle membrane. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in type 1 diabetes mellitus. Orthologous to human ICA1 (islet cell autoantigen 1). PHENOTYPE: Homozygous mutation of this gene results in diabetes and spontaneous lethality at 4-5 months of age on a NOD background, however mice on a 129/Sv background are normal. Onset of diabetes starts 4 weeks later than wild-type NOD mice and mutants are resistant to cyclophospamide-accelerated diabetes. [provided by MGI curators] |