Aliases for PAM16 Gene
- Presequence Translocase Associated Motor 16 2 3
- Presequence Translocase Associated Motor 16 Homolog 2 3 5
- Mitochondria Associated Protein Involved In Granulocyte Macrophage Colony Stimulating Factor Signal Transduction 2 3
- Mitochondria-Associated Granulocyte Macrophage CSF-Signaling Molecule 3 4
- MAGMAS 3 4
- TIMM16 3 4
- TIM16 3 4
External Ids for PAM16 Gene
Previous GeneCards Identifiers for PAM16 Gene
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]
GeneCards Summary for PAM16 Gene
PAM16 (Presequence Translocase Associated Motor 16) is a Protein Coding gene. Diseases associated with PAM16 include Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type and Skeletal Dysplasia. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. An important paralog of this gene is CORO7-PAM16.
UniProtKB/Swiss-Prot for PAM16 Gene
Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.