PAM16, Official Symbol PAM16provided by HGNC Official Full Name presequence translocase associated motor 16provided by HGNC Primary source HGNC:HGNC:29679 See related Ensembl:ENSG00000217930 MIM:614336; AllianceGenome:HGNC:29679 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TIM16; MAGMAS; SMDMDM; TIMM16; CGI-136 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] Expression Ubiquitous expression in testis (RPKM 9.8), adrenal (RPKM 6.6) and 25 other tissues See more Orthologs mouse all