Primary Identifier | MGI:98865 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 22139 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables molecular sequestering activity. Involved in negative regulation of glomerular filtration and retinoid metabolic process. Is active in extracellular region. Is expressed in several structures, including brain; egg cylinder; gut; reproductive system; and urinary system. Used to study transthyretin amyloidosis. Human ortholog(s) of this gene implicated in Alzheimer's disease; amyloidosis; carpal tunnel syndrome 1; dystransthyretinemic hyperthyroxinemia; and transthyretin amyloidosis. Orthologous to human TTR (transthyretin). PHENOTYPE: Homozygous mutation of this gene results in decreased circulating thyroxine, triiodothyronine, and retinol levels. [provided by MGI curators] |