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 |
|---|---|---|---|
| RS1015613805 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS111392631 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS113374262 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS115507225 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder |
| RS116727742 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder |
| RS1234297037 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140482502 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS142097048 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS142535753 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS1443994613 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144732922 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS144826521 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS145105621 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS145606585 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146293544 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS146515622 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder |
| RS147000685 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder |
| RS147257615 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS148575027 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS149243712 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS149268737 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS149449510 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS149693840 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Ovarian serous cystadenocarcinoma |
| RS181626399 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder |
| RS184339274 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS187584458 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS190007694 | Health Risk | Conflicting classifications of pathogenicity | Uterine carcinosarcoma, Uterine carcinosarcoma |
| RS199684766 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS199706677 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS200017171 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder |
| RS200061143 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200138144 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS200686732 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| RS200747013 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS201370020 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS201587698 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370683872 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder |
| RS372371276 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS373513189 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS373649496 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS373908553 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS376787135 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS546399905 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS553466522 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS559176918 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS565991343 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS570349090 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS571550652 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS572849791 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS747400412 | Health Risk | Conflicting classifications of pathogenicity | — |