full name
propionyl-CoA carboxylase alpha subunit

synonyms
PCCA, ENSG00000175198

HGNC
HGNC:8653

Entrez Gene
Gene:5095

ENSEMBL
ENSG00000175198

location
chr: 13
start: 100741269
stop: 101182691
strand: +

OMIM
OMIM:232000: PCCA (Autosomal recessive inheritance)
OMIM:606054: Propionicacidemia

transcripts
NM_000282.3
NM_001178004.1
NM_001127692.2

pathways
2-oxobutanoate degradation [NCBI:142413] [BIOCYC:HUMAN_PWY-5130] [PUBMED:1346616] [PUBMED:3718468] [PUBMED:3555348] [PUBMED:1975493] [PUBMED:6643681] [PUBMED:3460076] [PUBMED:10502773] [PUBMED:16752391]
Biotin transport and metabolism [NCBI:1270153] [REACTOME:R-HSA-196780] [PUBMED:19319844]
Carbon metabolism [NCBI:814926] [KEGG:hsa01200]
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]
Fatty acid, triacylglycerol, and ketone body metabolism [NCBI:1270010] [REACTOME:R-HSA-535734]
Glyoxylate and dicarboxylate metabolism [NCBI:83002] [KEGG:hsa00630] [PUBMED:10978349] [PUBMED:16407450] [PUBMED:21252347] [PUBMED:11513957] [PUBMED:9596633] [PUBMED:18065535] [PUBMED:18819910]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]
Mitochondrial Fatty Acid Beta-Oxidation [NCBI:1270015] [REACTOME:R-HSA-77289] [PUBMED:10527676] [PUBMED:11826276] [PUBMED:7951672] [PUBMED:1431593]
Propanoate metabolism [NCBI:83004] [KEGG:hsa00640]
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoA [NCBI:1239574] [KEGG:hsa_M00741]
Propionyl-CoA catabolism [NCBI:1270025] [REACTOME:R-HSA-71032]
Valine, leucine and isoleucine degradation [NCBI:82952] [KEGG:hsa00280]
propionyl-CoA degradation [NCBI:142417] [BIOCYC:HUMAN_PROPIONMET-PWY] [PUBMED:16752391] [PUBMED:10502773] [PUBMED:6643681] [PUBMED:1975493] [PUBMED:3460076] [PUBMED:3555348] [PUBMED:1346616]
superpathway of methionine degradation [NCBI:142373] [BIOCYC:HUMAN_PWY-5328]