full name
3-hydroxymethyl-3-methylglutaryl-CoA lyase

synonyms
HL, HMGCL, ENSG00000117305

HGNC
HGNC:5005

Entrez Gene
Gene:3155

ENSEMBL
ENSG00000117305

location
chr: 1
start: 24128367
stop: 24165110
strand: -

OMIM
OMIM:613898: HMGCL (Autosomal recessive inheritance)
OMIM:246450: HMG-CoA lyase deficiency

transcripts
NM_001166059.1
NM_000191.2

pathways
Butanoate metabolism [NCBI:83007] [KEGG:hsa00650]
Fatty acid, triacylglycerol, and ketone body metabolism [NCBI:1270010] [REACTOME:R-HSA-535734]
Ketone body metabolism [NCBI:1270026] [REACTOME:R-HSA-74182] [PUBMED:21479626]
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 lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Peroxisome [NCBI:131226] [KEGG:hsa04146] [PUBMED:17055079] [PUBMED:16631601] [PUBMED:17055078] [PUBMED:17010456]
Synthesis and degradation of ketone bodies [NCBI:82936] [KEGG:hsa00072]
Synthesis of Ketone Bodies [NCBI:1270027] [REACTOME:R-HSA-77111] [PUBMED:21479626]
Valine, leucine and isoleucine degradation [NCBI:82952] [KEGG:hsa00280]
ketogenesis [NCBI:545368] [BIOCYC:HUMAN_PWY66-367] [PUBMED:12364542] [PUBMED:9727714] [PUBMED:14769483] [PUBMED:10031425] [PUBMED:18668440] [PUBMED:1196305] [PUBMED:8027038] [PUBMED:17371050] [PUBMED:20491249]
leucine degradation [NCBI:142359] [BIOCYC:HUMAN_LEU-DEG2-PWY] [PUBMED:13892210] [PUBMED:6773935] [PUBMED:773366] [PUBMED:6304077] [PUBMED:4150714]