PC Chromosome 11
Pyruvate carboxylase
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What This Gene Does
This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Pyruvate carboxylase family"
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000173599
Associated Conditions (17)
Pyruvate carboxylase deficiency
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
PC-related disorder
Thyroid cancer
nonmedullary
1
Clear cell carcinoma of kidney
Cholangiocarcinoma
Malignant tumor of urinary bladder
Nonpapillary renal cell carcinoma
Global developmental delay
Congenital lactic acidosis
Thrombophilia due to protein C deficiency
autosomal dominant
autosomal recessive
Key Variants
RS1057035880
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
Health Risk
RS1057520687
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
Health Risk
RS111858832
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Ovarian serous cystadenocarcinoma, Acute myeloid leukemia
Health Risk
RS113994142
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
Health Risk
RS1161512784
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
Health Risk
RS116518022
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
Health Risk
RS1226564535
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
Health Risk
RS1324553572
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
Health Risk
RS1334114597
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
Health Risk
RS1349343839
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
Health Risk
RS138760063
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
Health Risk
RS139717038
Conflicting classifications of pathogenicity
Pyruvate carboxylase deficiency, PC-related disorder, Pyruvate carboxylase deficiency
Health Risk
All Variants (258)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135785388 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135785399 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135786512 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135786710 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135789146 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135790424 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135795582 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135800153 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135803326 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135809396 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135813862 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135814786 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135904801 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135917031 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135917229 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135917452 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135917561 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135940752 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135941937 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495378431 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495380515 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495382261 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495391310 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495399570 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495400122 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495400851 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495404851 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495406855 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495416125 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495444900 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495456777 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495508261 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495509213 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495672743 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495672932 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495762440 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495781450 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495790186 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS28940589 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS28940590 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS28940591 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS756355930 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS770383752 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS776114073 | Health Risk | Pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS796052030 | Health Risk | Pathogenic | — |
| RS113994145 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS113994148 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS1415973565 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS144583275 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2135783409 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |