Aliases for LONP1 Gene
External Ids for LONP1 Gene
Previous HGNC Symbols for LONP1 Gene
Previous GeneCards Identifiers for LONP1 Gene
This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
GeneCards Summary for LONP1 Gene
LONP1 (Lon Peptidase 1, Mitochondrial) is a Protein Coding gene. Diseases associated with LONP1 include Codas Syndrome and Pyruvate Dehydrogenase E1-Alpha Deficiency. Among its related pathways are Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and serine-type endopeptidase activity. An important paralog of this gene is LONP2.
UniProtKB/Swiss-Prot Summary for LONP1 Gene
ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner. May regulate mitochondrial DNA replication and/or gene expression using site-specific, single-stranded DNA binding to target the degradation of regulatory proteins binding to adjacent sites in mitochondrial promoters (PubMed:12198491, PubMed:15870080, PubMed:17420247, PubMed:8248235). Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein, helicase Twinkle (TWNK) and the large ribosomal subunit protein bL32m. bL32m is protected from degradation by LONP1 when it is bound to a nucleic acid (RNA), but TWNK is not (PubMed:17579211, PubMed:28377575).