| ncRNA Symbol: | PAM16 |
| Full Name: | presequence translocase associated motor 16 |
| Category: | mRNA |
| Synonyms: | CGI-136|MAGMAS|SMDMDM|TIM16|TIMM16 |
| Chromosome: | chr16 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 4331549 | End Site(bp): | 4355607 |
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| Gene Summary: | 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] |
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