| lon peptidase 1, mitochondrial | OKDB#: 5635 |
| Symbols: | LONP1 | Species: | human | ||
| Synonyms: | LON, LONP, PIM1, hLON, LonHS, CODASS, PRSS15 | Locus: | 19p13.3 in Homo sapiens |
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| General Comment | NCBI Summary: 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] | ||||
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| Cellular localization | Mitochondrial | ||||
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| Ovarian localization | Oocyte, Granulosa | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | July 24, 2019, 8:22 p.m. | by: |
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| last update: | July 24, 2019, 8:28 p.m. | by: | hsueh email: |
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