PAM16

Chr 16AR

presequence translocase associated motor 16

Also known as: CGI-136, MAGMAS, SMDMDM, TIM16, TIMM16

NCBI Gene: 51025 ENSG00000217930 UniProt: Q9Y3D7 OMIM: 614336

The protein regulates ATP-dependent protein translocation into the mitochondrial matrix and inhibits DNAJC19 stimulation of HSPA9 ATPase activity. Mutations cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay, and skeletal abnormalities. Inheritance is autosomal recessive.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike typeMIM #613320

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.86

LOEUF

Mechanism· predicted