full name
pyruvate carboxylase

synonyms
PCB, PC, ENSG00000173599

HGNC
HGNC:8636

Entrez Gene
Gene:5091

ENSEMBL
ENSG00000173599

location
chr: 11
start: 66615993
stop: 66725847
strand: -

OMIM
OMIM:608786: PC (Autosomal recessive inheritance)
OMIM:266150: Pyruvate carboxylase deficiency

transcripts
NM_000920.3
NM_001040716.1
NM_022172.2

pathways
Biosynthesis of amino acids [NCBI:790012] [KEGG:hsa01230]
Biotin transport and metabolism [NCBI:1270153] [REACTOME:R-HSA-196780] [PUBMED:19319844]
Carbon metabolism [NCBI:814926] [KEGG:hsa01200]
Citrate cycle (TCA cycle) [NCBI:82927] [KEGG:hsa00020]
Defective HLCS causes multiple carboxylase deficiency [NCBI:1268975] [REACTOME:R-HSA-3371599] [PUBMED:10068510] [PUBMED:21894551] [PUBMED:12124727] [PUBMED:16134170] [PUBMED:18442489] [PUBMED:18429047]
Defects in biotin (Btn) metabolism [NCBI:1268974] [REACTOME:R-HSA-3323169] [PUBMED:23550138] [PUBMED:16134170] [PUBMED:18442489]
Defects in vitamin and cofactor metabolism [NCBI:1268959] [REACTOME:R-HSA-3296482]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of metabolism [NCBI:1268939] [REACTOME:R-HSA-5668914]
Gluconeogenesis [NCBI:1269961] [REACTOME:R-HSA-70263] [PUBMED:8379904]
Glucose metabolism [NCBI:1269959] [REACTOME:R-HSA-70326]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of carbohydrates [NCBI:1269957] [REACTOME:R-HSA-71387]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]
Pyruvate metabolism [NCBI:82998] [KEGG:hsa00620] [NCBI:1270123] [REACTOME:R-HSA-70268] [PUBMED:2188967] [PUBMED:7273846]
gluconeogenesis [NCBI:782382] [BIOCYC:HUMAN_PWY66-399]