full name
methylcrotonoyl-CoA carboxylase 1

synonyms
MCC-B, MCCA, MCCC1, ENSG00000078070

HGNC
HGNC:6936

Entrez Gene
Gene:56922

ENSEMBL
ENSG00000078070

location
chr: 3
start: 182733006
stop: 182817373
strand: -

OMIM
OMIM:609010: MCCC1 (Autosomal recessive inheritance)
OMIM:210200: 3-Methylcrotonyl-CoA carboxylase 1 deficiency

transcripts
NM_020166.3

pathways
Biotin transport and metabolism [NCBI:1270153] [REACTOME:R-HSA-196780] [PUBMED:19319844]
Branched-chain amino acid catabolism [NCBI:1270161] [REACTOME:R-HSA-70895]
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]
Leucine degradation, leucine => acetoacetate + acetyl-CoA [NCBI:413354] [KEGG:hsa_M00036]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]
Valine, leucine and isoleucine degradation [NCBI:82952] [KEGG:hsa00280]
leucine degradation [NCBI:142359] [BIOCYC:HUMAN_LEU-DEG2-PWY] [PUBMED:13892210] [PUBMED:6773935] [PUBMED:773366] [PUBMED:6304077] [PUBMED:4150714]