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This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Predicted intracellular proteins Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004176 [ATP-dependent peptidase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006508 [proteolysis] GO:0016020 [membrane] GO:0016567 [protein ubiquitination] GO:0031464 [Cul4A-RING E3 ubiquitin ligase complex] GO:0032463 [negative regulation of protein homooligomerization] GO:0034766 [negative regulation of ion transmembrane transport] GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0046872 [metal ion binding] GO:0090073 [positive regulation of protein homodimerization activity]
Predicted intracellular proteins Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
