Gene Symbol | PAM16 |
Entrez Gene ID | 51025 |
Full Name | presequence translocase associated motor 16 |
Synonyms | CGI-136,MAGMAS,SMDMDM,TIM16,TIMM16 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3) |