PAM16

presequence translocase associated motor 16

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]

Known Variants66 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14320534416:4,389,928G/Tregulatory region variant—
rs74001716:4,390,032G/C—benign
rs36833785516:4,390,323C/T—likely benign
rs76162785216:4,390,343T/C—uncertain significance
rs37333686816:4,390,353C/T—likely benign
rs1198916:4,390,358T/G—uncertain significance
rs77135237216:4,390,386G/A—likely benign
rs37259622616:4,390,388G/A—uncertain significance
rs131434423216:4,390,391C/T—uncertain significance
rs37571273116:4,390,398G/A—likely benign
rs77598358916:4,390,399C/T—uncertain significance
rs96005335116:4,390,415T/A—likely benign
rs37123727516:4,390,416C/T—likely benign
rs20045945816:4,390,418C/T—benign
rs36904355316:4,390,419G/A—likely benign
rs79631852516:4,390,422T/C—likely benign
rs75433693816:4,390,426C/G—likely benign
rs62186716:4,390,647T/C—benign
rs7350724516:4,390,873G/A—benign
rs11665714916:4,390,911G/A—benign
rs14297638516:4,390,914C/A—likely benign
rs205363479916:4,390,944C/T—uncertain significance
rs214114053016:4,390,949A/G—uncertain significance
rs99531293816:4,390,970A/C—uncertain significance
rs78620398916:4,390,986T/Cmissense variantpathogenic
rs54393911316:4,390,989G/A—benign
rs205363566016:4,390,991A/G—likely benign
rs76446250716:4,390,995G/A—likely benign
rs77683828516:4,391,002G/A—likely benign
rs76205150716:4,391,004C/T—likely benign
rs205363604016:4,391,006G/A—likely benign
rs207215116:4,391,040C/T—benign
rs5748714016:4,391,281A/G—benign
rs77997432716:4,391,351G/A—likely benign
rs20017587216:4,391,354G/A—benign
rs205364343116:4,391,360T/C—likely benign
rs250563280716:4,391,362G/T—likely benign
rs159624772116:4,391,373T/G—pathogenic
rs76684184516:4,391,402G/A—likely benign
rs20142256316:4,391,435G/A—likely benign
rs75834577316:4,391,453G/A—likely benign
rs74694908416:4,391,462C/G—likely benign
rs14461442516:4,391,463C/T—benign
rs77476821816:4,391,481C/T—uncertain significance
rs131498311316:4,391,482G/C—uncertain significance
rs76429894316:4,391,500G/A—uncertain significance
rs5584590116:4,391,567C/T—benign
rs1244569316:4,391,733T/A—benign
rs7276657116:4,391,809T/C—benign
rs53598063416:4,393,193C/T—likely benign
rs55572463916:4,393,194G/A—likely benign
rs7276657316:4,393,196G/A—likely benign
rs92000882516:4,393,200A/G—likely benign
rs92855587616:4,393,245G/A—likely benign
rs75119873516:4,393,265T/C—uncertain significance
rs36841173916:4,393,269A/G—likely benign
rs78139271016:4,393,272G/A—likely benign
rs214114466116:4,393,283G/C—uncertain significance
rs228930316:4,393,376A/C—benign
rs55214941016:4,397,199G/A——
rs650059516:4,401,058G/C—benign
rs205385378316:4,401,213G/A—likely benign
rs20046512116:4,401,219G/A—benign
rs75797363016:4,401,230C/T—uncertain significance
rs993785416:4,401,488A/G—benign
rs5986693916:4,401,557G/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.