This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PAM16-20-RE | 20 (40 μL) | 200 μL |  |
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| PAM16-20-OR | 20 (40 μL) | 200 μL |  |
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| PAM16-20-GO | 20 (40 μL) | 200 μL |  |
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| PAM16-20-GR | 20 (40 μL) | 200 μL |  |
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| PAM16-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]
Gene Symbol : PAM16
Gene Name : Presequence translocase associated motor 16
Chromosome : CHR 16: 435,137,1-434,025,0
Locus : 16p13.3
Alt. Genes : ZMPSTE24
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