XB-FEAT-6455912

pam16

This is the community wiki page for the gene pam16 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

undated change Human name has changed Entrez Gene: 51025. From presequence translocase-associated motor 16 homolog (S. cerevisiae) to presequence translocase associated motor 16 homolog

08/15/2017 Human name has changed for Entrez Gene: 51025. From presequence translocase associated motor 16 homolog to presequence translocase associated motor 16

summary from NCBI

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]