Gene: LONP1

Alternate names for this Gene: CODASS|LON|LONP|LonHS|PIM1|PRSS15|hLON

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.3

Description of this Gene: lon peptidase 1, mitochondrial

Type of Gene: protein-coding

rs549574673 in LONP1 gene and CODAS syndrome PMID 25808063 2015 Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

PMID 25574826 2015 CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

rs3892355 in LONP1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2436508 in LONP1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.