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 |
|---|---|---|---|
| RS2466401731 | Health Risk | Likely pathogenic | — |
| RS2466423921 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466424076 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466424201 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466424623 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466424635 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466450073 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466450957 | Health Risk | Likely pathogenic | — |
| RS2466451739 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466451908 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466452466 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466482671 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466482718 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466522962 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466522998 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466525468 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466555085 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466555344 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466555474 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466555852 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466561448 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466561726 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466562014 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466564858 | Health Risk | Likely pathogenic | — |
| RS2466565444 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466565538 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466569559 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466571300 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466571469 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466571559 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466575584 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466575705 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466575847 | Health Risk | Likely pathogenic | — |
| RS2466580454 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466584394 | Health Risk | Likely pathogenic | — |
| RS2466617245 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466617293 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466617723 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466627756 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466627828 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466659679 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466659682 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466660353 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466660937 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466661225 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466661325 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466662740 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466663066 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466666431 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS2466666497 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |