XB-FEAT-6455912: Difference between revisions
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= | =pam16= | ||
This is the community wiki page for the gene '' | 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] | |||
Latest revision as of 08:44, 15 August 2017
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]