HMGCL - 3-hydroxy-3-methylglutaryl-CoA lyase Gene

Also Known as HL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3155

About HMGCL

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:23,801,885-23,825,429 (from NCBI)

This gene has 9 transcripts (splice variants), 204 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 67.1), kidney (RPKM 50.9) and 24 other tissues.

Summary

The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

HMGCL Products (2)

mRNA	Protein	Name
NM_000191.3	NP_000182.2	hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor
NM_001166059.2	NP_001159531.1	hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables hydroxymethylglutaryl-CoA lyase activity	IDA IDA: Inferred from direct assay	8027038	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	9200711	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	9200711	GOA
enables metal ion binding	IDA IDA: Inferred from direct assay	16330550	GOA
enables structural molecule activity	IDA IDA: Inferred from direct assay	12464283	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ketone body biosynthetic process	IDA IDA: Inferred from direct assay	9200711	GOA
involved in lipid metabolic process	IDA IDA: Inferred from direct assay	8027038	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	9869651	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9869651	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	12464283	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HMGCL Protein Structure

HMGL-like

0
100
200
300
325 a.a.

Protein Preferred Names	Protein Names
hydroxymethylglutaryl-CoA lyase, mitochondrial	3-hydroxy-3-methylglutarate-CoA lyase

HMGCL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83279	HMGCL Antibody (YA3024)	WB	Human
HY-P83279A	HMGCL Antibody (YA3024)(PBS only)	WB	Human

Related Diseases

Diseases	Alias
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hmg-Coa Lyase Deficiency Hydroxymethylglutaric Aciduria Deficiency Of Hydroxymethylglutaryl-Coa Lyase HMGCLD Hmgcl Deficiency Hl Deficiency Hmg Coa Lyase Deficiency 3-Hydroxy-3-Methylglutaric Aciduria Defect In Leucine Metabolism 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Oh 3-Ch3 Glutaric Aciduria 3-Oh 3-Methyl Glutaric Aciduria 3hmg Hmg 3-Hydroxy 3-Methyl Glutaryl-Coa Lyase Deficiency Hydroxymethylglutaricaciduria Hepatic Lipase Deficiency
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	LCHAD DEFICIENCY Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency AFLP Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency Fatty Liver, Acute, Of Pregnancy Acute Fatty Liver Of Pregnancy Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency Trifunctional Protein Deficiency, Type 1 Hellp Syndrome, Maternal, Of Pregnancy Acute Fatty Liver, Gestational 3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency Lchadd Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency Maternal Acute Fatty Liver Of Pregnancy Trifunctional Protein Deficiency Type 1 Trifunctional Protein Deficiency With Myopathy And Neuropathy
Reye Syndrome	Reye'S Syndrome Rasmussen Encephalitis Fatty Liver With Encephalopathy Rasmussen'S Encephalitis Re Rs Rasmussen Syndrome Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome Reye Encephalopathy
Metabolic Acidosis
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Alpha-Methylacetoacetic Aciduria	Beta-Ketothiolase Deficiency 3-Ketothiolase Deficiency 3-Oxothiolase Deficiency Mitochondrial Acetoacetyl-Coa Thiolase Deficiency Alpha-Methylacetoaceticaciduria Mat Deficiency T2 Deficiency 2-Methyl-3-Hydroxybutyricacidemia Beta Ketothiolase Deficiency Pseudo-Zellweger Syndrome 2-Methyl-3-Hydroxybutyric Acidemia 3-Ktd Deficiency Peroxisomal Thiolase Deficiency 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency 3-Alpha-Oxothiolase Deficiency Methylacetoacetyl-Coenzyme A Thiolase Deficiency Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated Β-Ketothiolase Deficiency Alpha Methylacetoacetic Aciduria Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency 3KTD Aciduria, Alpha-Methylacetoacetic Deficiency Of Acetyl-Coa Acetyltransferase Deficiency Of Acetyl-Coa Acyltransferase Hepatic Methionine Adenosyltransferase Deficiency Bifunctional Peroxisomal Enzyme Deficiency
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelic Chondrodysplasia Punctata Type 2 Dihydroxyacetonephosphate Acyltransferase Deficiency RCDP2 Dhapat Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Chondrodysplasia Punctata, Rhizomelic, Type 2 Rhizomelic Chondrodysplasia Punctata 2
3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Methylcrotonylglycinuria Mcc Deficiency Methylcrotonyl-Coa Carboxylase Deficiency Bmcc Deficiency 3-Mcc Deficiency 3mcc Mccd 3mcc Deficiency Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 3-Mcc 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Deficiency Of Methylcrotonoyl-Coa Carboxylase 3-Methyl Crotonyl-Coa Carboxylase Deficiency 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Mcad Deficiency Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency Acadm Deficiency Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of Medium Chain Acyl-Coa Dehydrogenase Deficiency ACADMD Mcadh Deficiency Mcadd Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase Medium-Chain Deficiency Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Medium Chain Acyl Dehydrogenase Deficiency
Holocarboxylase Synthetase Deficiency	HLCS DEFICIENCY Early-Onset Multiple Carboxylase Deficiency Biotin- Ligase Deficiency Neonatal Multiple Carboxylase Deficiency Multiple Carboxylase Deficiency, Neonatal Form Multiple Carboxylase Deficiency, Early Onset Multiple Carboxylase Deficiency - Neonatal Onset Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Combined Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Biotin-Responsive Mcd Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Mcd Mcd Neonatal Form
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06236	HMGCL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20953	Hmgcl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27470	Hmgcl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HMGCL	VGNC	VGNC:67595
Rattus norvegicus	HMGCL	RGD	RGD:620554
Macaca mulatta	HMGCL	VGNC	VGNC:73483
Mus musculus	HMGCL	MGD	MGI:96158
Canis familiaris	HMGCL	VGNC	VGNC:41712
Bos taurus	HMGCL	VGNC	VGNC:29877
Others	HMGCL	NCBI