PC Chromosome 11

Pyruvate carboxylase
258 variants 258 Health Risk

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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
RS1057035880 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1057520687 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS111858832 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Ovarian serous cystadenocarcinoma, Acute myeloid leukemia
RS113994142 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1161512784 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS116518022 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS1226564535 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1324553572 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1334114597 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS1349343839 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS138760063 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS139717038 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder, Pyruvate carboxylase deficiency
RS139795235 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS141237842 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS141324828 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS141543771 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS142036463 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS142416378 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS143725101 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS144087445 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS144982348 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS145654496 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder, Pyruvate carboxylase deficiency
RS145891535 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS146840773 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS147594996 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS147697454 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS147945506 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Thyroid cancer, nonmedullary
RS148492494 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS148613404 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS148661980 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyruvate carboxylase deficiency, Inborn genetic diseases
RS148805312 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS148913798 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS150731428 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS1591119887 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1591122325 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS183131461 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS185412729 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS186152567 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS190223302 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS193271416 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS199568784 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS199616332 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS199969388 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS200030109 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, PC-related disorder
RS200433873 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS200473405 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS200766019 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS201125422 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS201776268 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS201796252 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder, Pyruvate carboxylase deficiency
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