Tbio | Mitochondrial import inner membrane translocase subunit TIM16 |
Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.
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]
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]
Comments
Disease | Target Count |
---|---|
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type | 1 |
Species | Source | Disease |
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Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
OMA EggNOG | ||
Inparanoid OMA | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA | ||
Inparanoid OMA EggNOG |