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 |
|---|---|---|---|
| RS748138102 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751140324 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754438818 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS754678956 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754771907 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Inborn genetic diseases |
| RS762413841 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765094280 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765647846 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765911841 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766703715 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS767831585 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768083517 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS886056056 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS886056057 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS886056059 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS886056060 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS886056061 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS886056063 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS947601190 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS975809121 | Health Risk | Conflicting classifications of pathogenicity | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1060499785 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1160846305 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1181950299 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1202515342 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1249427615 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1266345519 | Health Risk | Likely pathogenic | — |
| RS1282249251 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1300725076 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1301842578 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1330743871 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Hepatocellular carcinoma |
| RS1333489321 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1334556134 | Health Risk | Likely pathogenic | — |
| RS1351402169 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, LRPPRC-related disorder |
| RS1363486576 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1446589532 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1475772376 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553388067 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Thyroid cancer |
| RS1553391303 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553396232 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553398334 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553400391 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553400685 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553400727 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Squamous cell carcinoma of the head and neck |
| RS1553403303 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553403596 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553403879 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553404194 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553408603 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553410852 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |
| RS1553410995 | Health Risk | Likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, Congenital lactic acidosis |