The metaxin (Mtx) gene is closely linked to the genes for thrombospondin 3 (Thbs3), Muc1, and glucocerebrosidase (Gba) on human chromosome 1q21 and mouse chromosome 3E3-F1. Mtx is located between Thbs3 and Gba and was thus given the name "metaxin", meaning "in between", in Greek. Mtx and Thbs3 are positioned in a head-to-head orientation, are transcribed divergently, and share a common promoter. Mtx and Gba are positioned in a tail-to-tail orientation and are transcribed convergently. The metaxin protein is ubiquitously expressed and is 91.5% identical between human and mouse. It is rich in leucine, basic, and acidic amino acids and lacks an N-terminal signal sequence and N-glycosylation sites. Efforts to develop a mouse model for Gaucher disease involved disruption of the 3' flanking region of the Gba, which is the terminal exon of Mtx. Homozygous disruption of this region resulted in the death of mice early in gestation, indicating the importance of metaxin in embryonic development. In addition, metaxin contains a putative C-terminal membrane signal anchor domain and localizes to the mitochondrial outer membrane where it is thought to function in mitochondrial import.
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1.Since applications vary, each investigator should titrate the reagent to obtain optimal results.
2.Caution: Sodium azide yields highly toxic hydrazoic acid under acidic conditions. Dilute azide compounds in running water before discarding to avoid accumulation of potentially explosive deposits in plumbing.
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