LONP1 Chromosome 19
Lon peptidase 1, mitochondrial
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What This Gene Does
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]
Gene Info
Gene Group
"AAA ATPases|Serine proteases|Mitochondrial nucleoid associated proteins"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000196365
Associated Conditions (14)
LONP1-related disorder
Inborn genetic diseases
CODAS syndrome
See cases
Neurodevelopmental disorder
Gastric cancer
Hepatocellular carcinoma
Malignant tumor of esophagus
Malignant lymphoma
large B-cell
diffuse
Thyroid cancer
nonmedullary
1
Key Variants
RS1025252513
Conflicting classifications of pathogenicity
Health Risk
RS112807920
Conflicting classifications of pathogenicity
LONP1-related disorder, LONP1-related disorder
Health Risk
RS116591583
Conflicting classifications of pathogenicity
LONP1-related disorder, LONP1-related disorder
Health Risk
RS1319441126
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1382601981
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138631909
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139555567
Conflicting classifications of pathogenicity
LONP1-related disorder, LONP1-related disorder
Health Risk
RS139759295
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139791767
Conflicting classifications of pathogenicity
CODAS syndrome, Inborn genetic diseases, CODAS syndrome
Health Risk
RS140317309
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141593936
Conflicting classifications of pathogenicity
CODAS syndrome, Inborn genetic diseases, CODAS syndrome
Health Risk
RS141916070
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377243139 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377388291 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377610939 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS527677472 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS535918140 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS541961432 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS543969761 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS558125416 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745742429 | Health Risk | Conflicting classifications of pathogenicity | CODAS syndrome, CODAS syndrome |
| RS746404427 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747867148 | Health Risk | Conflicting classifications of pathogenicity | CODAS syndrome, CODAS syndrome |
| RS748335411 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS748759945 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749947894 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750279642 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751037617 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751453098 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756247881 | Health Risk | Conflicting classifications of pathogenicity | CODAS syndrome, CODAS syndrome |
| RS757666530 | Health Risk | Conflicting classifications of pathogenicity | CODAS syndrome, LONP1-related disorder, CODAS syndrome |
| RS757899954 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, LONP1-related disorder, Inborn genetic diseases |
| RS758142635 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758993386 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762455286 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762567071 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766783227 | Health Risk | Conflicting classifications of pathogenicity | CODAS syndrome, CODAS syndrome |
| RS766977148 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CODAS syndrome, Inborn genetic diseases |
| RS767864030 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768949488 | Health Risk | Conflicting classifications of pathogenicity | CODAS syndrome, CODAS syndrome |
| RS773555758 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774508503 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774896913 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777009012 | Health Risk | Conflicting classifications of pathogenicity | CODAS syndrome, CODAS syndrome |
| RS781065201 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781452903 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781721407 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS79241408 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS80050321 | Health Risk | Conflicting classifications of pathogenicity | LONP1-related disorder, CODAS syndrome, Inborn genetic diseases |
| RS879255247 | Health Risk | Conflicting classifications of pathogenicity | CODAS syndrome, Neurodevelopmental disorder, LONP1-related disorder |
| RS953327449 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057521679 | Health Risk | Likely pathogenic | — |
| RS1555708276 | Health Risk | Likely pathogenic | — |
| RS1555713236 | Health Risk | Likely pathogenic | — |
| RS1555713731 | Health Risk | Likely pathogenic | — |
| RS1555715029 | Health Risk | Likely pathogenic | — |
| RS1599439595 | Health Risk | Likely pathogenic | CODAS syndrome, CODAS syndrome |
| RS2512386644 | Health Risk | Likely pathogenic | — |
| RS2512409407 | Health Risk | Likely pathogenic | LONP1-related disorder, LONP1-related disorder |
| RS2512415167 | Health Risk | Likely pathogenic | LONP1-related disorder, LONP1-related disorder |
| RS1599475959 | Health Risk | Pathogenic | — |
| RS2512386646 | Health Risk | Pathogenic | LONP1-related disorder, LONP1-related disorder |