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

Homo sapiens

Also known as HL

Gene ID: 3155 | Gene type: protein coding

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

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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Purity	Rare Diseases
HY-113410	3-Methylglutaric acid	≥98.0%	Unkown
HY-113410S	3-Methylglutaric acid-d4	/	Unkown
HY-RS06236	HMGCL Human Pre-designed siRNA Set A	/	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

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