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 |
|---|---|---|---|
| RS1572894174 | Health Risk | Pathogenic | — |
| RS1670884795 | Health Risk | Pathogenic | — |
| RS1671301435 | Health Risk | Pathogenic | — |
| RS1672759652 | Health Risk | Pathogenic | — |
| RS1673920358 | Health Risk | Pathogenic | — |
| RS1673945046 | Health Risk | Pathogenic | — |
| RS1674088052 | Health Risk | Pathogenic | — |
| RS1674342263 | Health Risk | Pathogenic | — |
| RS1675041538 | Health Risk | Pathogenic | — |
| RS200326527 | Health Risk | Pathogenic | — |
| RS2103672990 | Health Risk | Pathogenic | — |
| RS2103715123 | Health Risk | Pathogenic | — |
| RS2103725910 | Health Risk | Pathogenic | — |
| RS2103745283 | Health Risk | Pathogenic | — |
| RS2104970514 | Health Risk | Pathogenic | — |
| RS2104989326 | Health Risk | Pathogenic | — |
| RS2104989806 | Health Risk | Pathogenic | — |
| RS2104989966 | Health Risk | Pathogenic | — |
| RS2104990067 | Health Risk | Pathogenic | — |
| RS2105026015 | Health Risk | Pathogenic | — |
| RS2105077791 | Health Risk | Pathogenic | — |
| RS2105080891 | Health Risk | Pathogenic | — |
| RS2105082548 | Health Risk | Pathogenic | — |
| RS2105084937 | Health Risk | Pathogenic | — |
| RS2465901202 | Health Risk | Pathogenic | — |
| RS2465901308 | Health Risk | Pathogenic | — |
| RS2466378358 | Health Risk | Pathogenic | — |
| RS2466401180 | Health Risk | Pathogenic | — |
| RS2466401200 | Health Risk | Pathogenic | — |
| RS2466401295 | Health Risk | Pathogenic | — |
| RS2466424047 | Health Risk | Pathogenic | — |
| RS2466450353 | Health Risk | Pathogenic | — |
| RS2466452128 | Health Risk | Pathogenic | — |
| RS2466452641 | Health Risk | Pathogenic | — |
| RS2466482774 | Health Risk | Pathogenic | — |
| RS2466483045 | Health Risk | Pathogenic | — |
| RS2466525725 | Health Risk | Pathogenic | — |
| RS2466555199 | Health Risk | Pathogenic | — |
| RS2466561720 | Health Risk | Pathogenic | — |
| RS2466565500 | Health Risk | Pathogenic | — |
| RS2466565735 | Health Risk | Pathogenic | — |
| RS2466569420 | Health Risk | Pathogenic | — |
| RS2466569435 | Health Risk | Pathogenic | — |
| RS2466569633 | Health Risk | Pathogenic | — |
| RS2466584318 | Health Risk | Pathogenic | — |
| RS2466659961 | Health Risk | Pathogenic | — |
| RS2466665288 | Health Risk | Pathogenic | — |
| RS2466668674 | Health Risk | Pathogenic | — |
| RS2466677048 | Health Risk | Pathogenic | — |
| RS2466685837 | Health Risk | Pathogenic | — |