LRPPRC Chromosome 2
Leucine rich pentatricopeptide repeat containing
Upload your DNA to see your personal genotypes for variants in LRPPRC.
What This Gene Does
This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Pentatricopeptide repeat containing|Mitochondrial nucleoid associated proteins"
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000138095
Associated Conditions (19)
Congenital lactic acidosis
Saguenay-Lac-Saint-Jean type
Inborn genetic diseases
LRPPRC-related disorder
Colorectal cancer
Familial pancreatic carcinoma
Melanoma
Acute myeloid leukemia
Malignant tumor of esophagus
Ovarian cancer
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Leigh syndrome
Hepatocellular carcinoma
Thyroid cancer
nonmedullary
1
Squamous cell carcinoma of the head and neck
Nonpapillary renal cell carcinoma
Key Variants
RS1015613805
Conflicting classifications of pathogenicity
Health Risk
RS111392631
Conflicting classifications of pathogenicity
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis
Health Risk
RS113374262
Conflicting classifications of pathogenicity
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases
Health Risk
RS115507225
Conflicting classifications of pathogenicity
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder
Health Risk
RS116727742
Conflicting classifications of pathogenicity
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder
Health Risk
RS1234297037
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140482502
Conflicting classifications of pathogenicity
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis
Health Risk
RS142097048
Conflicting classifications of pathogenicity
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis
Health Risk
RS142535753
Conflicting classifications of pathogenicity
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases
Health Risk
RS1443994613
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144732922
Conflicting classifications of pathogenicity
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases
Health Risk
RS144826521
Conflicting classifications of pathogenicity
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases
Health Risk
All Variants (347)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2466694885 | Health Risk | Pathogenic | — |
| RS2466695464 | Health Risk | Pathogenic | — |
| RS369324297 | Health Risk | Pathogenic | — |
| RS372341254 | Health Risk | Pathogenic | — |
| RS746627889 | Health Risk | Pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS749067246 | Health Risk | Pathogenic | — |
| RS749192795 | Health Risk | Pathogenic | — |
| RS761470523 | Health Risk | Pathogenic | — |
| RS764287278 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS797044605 | Health Risk | Pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS863224059 | Health Risk | Pathogenic | — |
| RS863225443 | Health Risk | Pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS863225444 | Health Risk | Pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS867969236 | Health Risk | Pathogenic | — |
| RS1022152551 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1390956301 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1453934366 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1465966933 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS148112476 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553406772 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553410876 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1558913371 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1670422432 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2103710225 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2103713116 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2103745422 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2105077465 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2105077651 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466378229 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466569915 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS750343121 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS752914914 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS754855090 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS755973480 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS758615834 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS760186575 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS761052211 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS764402730 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS769022521 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS774934005 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS775735922 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS863224052 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS863224053 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS863224055 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS863225445 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS986692550 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS989113962 | Health Risk | Pathogenic/Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |