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LONP1

Synonyms
CODASS, LON, LONP, LonHS, PIM1, PRSS15, hLON
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
25
VUS
11,526
Likely benign
5,358
Benign
5,440

Patient phenotypes

Proportions of phenotypes among 35 patients carrying pathogenic or likely pathogenic variants on LONP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28.6%
Abnormality of the eye
25.7%
Abnormality of the musculoskeletal system
17.1%
Abnormality of head or neck
14.3%
Abnormality of the integument
14.3%
Abnormality of limbs
8.6%
Abnormality of the ear
8.6%
Abnormality of the cardiovascular system
5.7%
Abnormality of the immune system
5.7%
Constitutional symptom
5.7%
Abnormal cellular phenotype
2.9%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of the digestive system
2.9%
Abnormality of the endocrine system
2.9%
Growth abnormality
2.9%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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