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
RS2495773703 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS35698729 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyruvate carboxylase deficiency, Inborn genetic diseases
RS368783983 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS370248734 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS371731636 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS372755874 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS373287823 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS373717650 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS374607634 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS375282341 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS45501894 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS534275006 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS542809148 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS550546666 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS563526275 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS568925019 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS574858955 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS61749179 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS745563711 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS745626388 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS747247743 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS748987495 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS751432105 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS751657066 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS752041697 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS753961343 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS755162836 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder, Pyruvate carboxylase deficiency
RS755385132 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS763298490 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder, Pyruvate carboxylase deficiency
RS767718063 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS769177104 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS773519800 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS773784306 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS773872994 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS773976056 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS774835884 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases, Pyruvate carboxylase deficiency
RS774982916 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS776825183 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS777927070 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS778839142 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyruvate carboxylase deficiency, Inborn genetic diseases
RS780215837 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS780315450 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS796052029 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS908978048 Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS918437272 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyruvate carboxylase deficiency, Inborn genetic diseases
RS1018564264 Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1057524862 Health Risk Likely pathogenic —
RS1064796030 Health Risk Likely pathogenic —
RS112948607 Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS113994143 Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
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