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 |
|---|---|---|---|
| RS2466666587 | Health Risk | Likely pathogenic | — |
| RS2466668557 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466668849 | Health Risk | Likely pathogenic | — |
| RS2466668863 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466668871 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466672753 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466675967 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466676219 | Health Risk | Likely pathogenic | — |
| RS2466676589 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466676917 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466676948 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466676961 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466676986 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466677023 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466685286 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466685332 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466685590 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466685684 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466685784 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466685921 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466694282 | Health Risk | Likely pathogenic | — |
| RS2466694465 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466695351 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466695686 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466696030 | Health Risk | Likely pathogenic | — |
| RS751068848 | Health Risk | Likely pathogenic | — |
| RS752998267 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS754215050 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Thyroid cancer |
| RS762254417 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS765834734 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS769187343 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS776095587 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS786205523 | Health Risk | Likely pathogenic | — |
| RS863224054 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS863224057 | Health Risk | Likely pathogenic | — |
| RS863224058 | Health Risk | Likely pathogenic | — |
| RS863225446 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS896524026 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS965898118 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS981453462 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1166980943 | Health Risk | Pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1185381711 | Health Risk | Pathogenic | — |
| RS119466000 | Health Risk | Pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder |
| RS1313744161 | Health Risk | Pathogenic | — |
| RS1313891160 | Health Risk | Pathogenic | — |
| RS1394324745 | Health Risk | Pathogenic | — |
| RS1458580158 | Health Risk | Pathogenic | — |
| RS148828179 | Health Risk | Pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553410866 | Health Risk | Pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553411748 | Health Risk | Pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |