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 b... See more...

Aliases for HMGCL Gene

Aliases for HMGCL Gene

  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase 2 3 5
  • 3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase 2 3
  • Hydroxymethylglutaryl-CoA Lyase, Mitochondrial 3 4
  • 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase 2 3
  • 3-Hydroxy-3-Methylglutarate-CoA Lyase 3 4
  • Hydroxymethylglutaricaciduria 2 3
  • HMG-CoA Lyase 3 4
  • EC 4.1.3.4 4 52
  • HL 3 4
  • Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Lyase 3
  • Hydroxymethylglutaryl-CoA Lyase 2
  • HSALNG0001670 167
  • Lnc-GALE-2 168

External Ids for HMGCL Gene

Previous GeneCards Identifiers for HMGCL Gene

  • GC01M023686
  • GC01M023199
  • GC01M023597
  • GC01M023873
  • GC01M024001
  • GC01M024128
  • GC01M022379

Summaries for HMGCL Gene

Entrez Gene Summary for HMGCL Gene

  • 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]

GeneCards Summary for HMGCL Gene

HMGCL (3-Hydroxy-3-Methylglutaryl-CoA Lyase) is a Protein Coding gene. Diseases associated with HMGCL include 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency and Reye Syndrome. Among its related pathways are Valine, leucine and isoleucine degradation and Ketone body metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is HMGCLL1.

UniProtKB/Swiss-Prot Summary for HMGCL Gene

  • Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism.

Additional gene information for HMGCL Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HMGCL Gene

Genomics for HMGCL Gene

GeneHancer (GH) Regulatory Elements for HMGCL Gene

Promoters and enhancers for HMGCL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J023824 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +13.3 13320 2.6 HNRNPK ZNF217 USF1 POLR2G SP1 NCOR1 GTF2E2 PHF8 ZFX EP300 HMGCL FUCA1 LYPLA2 LINC01355 piR-43105-022 piR-32214-022 LOC105376861 MG828730-001
GH01J023838 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 500.7 -0.1 -103 1.4 SP1 NR3C1 MXI1 SIN3A MYC TCF12 KLF9 CEBPB NKRF POLR2A HMGCL LOC105376861 FUCA1 piR-61945-009 MG828730-001
GH01J023809 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.3 +28.0 28019 2.8 CTCF USF1 NCOR1 TCF7 AFF1 TARDBP REST KLF7 TOE1 MYC FUCA1 PITHD1 ELOA-AS1 HMGCL piR-32214-022 piR-48143 MG828730-001
GH01J023829 Enhancer 0.9 Ensembl ENCODE 8 +8.3 8276 0.9 MYC FOXA2 HDAC3 NCOR1 NFIC ZNF592 ZBTB33 JUND TAL1 MNT piR-43105-022 FUCA1 HMGCL LOC105376861 MG828730-001
GH01J023726 Enhancer 0.9 ENCODE 4.7 +110.5 110485 3.1 TCF7 ZBTB25 TGIF2 TRIM22 TEAD1 ZSCAN9 FOXA2 SIN3A BCL11A MYC piR-32214-021 FUCA1 HMGCL RF00017-104 lnc-GALE-3 ELOA-AS1 MG828730-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HMGCL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMGCL

Top Transcription factor binding sites by QIAGEN in the HMGCL gene promoter:
  • CREB
  • CUTL1
  • deltaCREB
  • HSF2
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4

Genomic Locations for HMGCL Gene

Genomic Locations for HMGCL Gene
chr1:23,801,877-23,838,620
(GRCh38/hg38)
Size:
36,744 bases
Orientation:
Minus strand
chr1:24,128,367-24,165,110
(GRCh37/hg19)
Size:
36,744 bases
Orientation:
Minus strand

Genomic View for HMGCL Gene

Genes around HMGCL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMGCL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMGCL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMGCL Gene

Proteins for HMGCL Gene

  • Protein details for HMGCL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35914-HMGCL_HUMAN
    Recommended name:
    Hydroxymethylglutaryl-CoA lyase, mitochondrial
    Protein Accession:
    P35914
    Secondary Accessions:
    • B4DUP4
    • B7UCC6
    • D3Y5K7
    • Q6IBC0
    • Q96FP8

    Protein attributes for HMGCL Gene

    Size:
    325 amino acids
    Molecular mass:
    34360 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Homodimer; disulfide-linked. Can also form homotetramers.
    Miscellaneous:
    • [Isoform 2]: The transcript is not translated, but would result in a catalytically impaired product if it was.
    • [Isoform 3]: Very low expression. The transcript is not translated, but would result in a catalytically inactive product if it was.

    Three dimensional structures from OCA and Proteopedia for HMGCL Gene

    Alternative splice isoforms for HMGCL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMGCL Gene

Selected DME Specific Peptides for HMGCL Gene

P35914:
  • RLVGLASLRA
  • EVGPRDGLQNE
  • FICQALNR
  • NCSIEES
  • TSFVSPKWVPQM
  • VRGYVSC
  • PRRLVGL
  • GQALANTL
  • TPVKIKLIDMLSEAGL
  • ALAVHCHDTYGQAL
  • GASGNLATEDLVYML
  • YPVLTPN
  • GLGIHTGV
  • MGCYEISLGDTIGVGTPG

Post-translational modifications for HMGCL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HMGCL Gene

Domains & Families for HMGCL Gene

Gene Families for HMGCL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HMGCL Gene

Blocks:
  • Hydroxymethylglutaryl-coenzyme A lyase active site
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HMGCL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16378 fis, clone TKIDN2016399, highly similar to Hydroxymethylglutaryl-CoA lyase, mitochondrial (EC 4.1.3.4) (B1AK13_HUMAN)
  • cDNA FLJ53101, highly similar to Hydroxymethylglutaryl-CoA lyase, mitochondrial (EC 4.1.3.4) (B4DUP4_HUMAN)
  • 3-hydroxy-3-methylglutaryl-CoA lyase (B7UCC6_HUMAN)
  • Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (D3Y5K7_HUMAN)
  • 3-hydroxy-3-methylglutarate-CoA lyase (HMGCL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35914

UniProtKB/Swiss-Prot:

HMGCL_HUMAN :
  • Belongs to the HMG-CoA lyase family.
Family:
  • Belongs to the HMG-CoA lyase family.
genes like me logo Genes that share domains with HMGCL: view

Function for HMGCL Gene

Molecular function for HMGCL Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(3S)-hydroxy-3-methylglutaryl-CoA = acetoacetate + acetyl-CoA; Xref=Rhea:RHEA:24404, ChEBI:CHEBI:13705, ChEBI:CHEBI:43074, ChEBI:CHEBI:57288; EC=4.1.3.4; Evidence={ECO:0000269 PubMed:22847177, ECO:0000269 PubMed:22865860};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Stimulated by reducing agents such as dithiothreitol (DTT).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=200 uM for magnesium ion {ECO:0000269 PubMed:12874287, ECO:0000269 PubMed:15122894}; KM=48 uM for HMG-CoA {ECO:0000269 PubMed:12874287, ECO:0000269 PubMed:15122894}; Vmax=191 umol/min/mg enzyme {ECO:0000269 PubMed:12874287, ECO:0000269 PubMed:15122894};
GENATLAS Biochemistry:
3-hydroxy-3-methylglutaryl-CoA lyase,homodimeric mitochondrial and peroxisomal matrix enzyme,branched chain,last enzyme of ketogenesis from fatty acids and also leucine catabolism,lethal in HMGCL-deficient mice

Enzyme Numbers (IUBMB) for HMGCL Gene

Phenotypes From GWAS Catalog for HMGCL Gene

Gene Ontology (GO) - Molecular Function for HMGCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0000287 magnesium ion binding IDA 9200711
GO:0003824 catalytic activity IEA --
GO:0004419 hydroxymethylglutaryl-CoA lyase activity IDA,IEA 8027038
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with HMGCL: view
genes like me logo Genes that share phenotypes with HMGCL: view

Human Phenotype Ontology for HMGCL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HMGCL Gene

MGI Knock Outs for HMGCL:

Animal Model Products

CRISPR Products

miRNA for HMGCL Gene

miRTarBase miRNAs that target HMGCL

Clone Products

  • Addgene plasmids for HMGCL

No data available for Transcription Factor Targets and HOMER Transcription for HMGCL Gene

Localization for HMGCL Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMGCL Gene

Mitochondrion matrix. Peroxisome. Note=Unprocessed form is peroxisomal. {ECO:0000250 UniProtKB:P38060}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMGCL gene
Compartment Confidence
mitochondrion 5
peroxisome 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for HMGCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 9869651
GO:0005759 mitochondrial matrix TAS --
GO:0005777 peroxisome IDA,IEA 9869651
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HMGCL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HMGCL Gene

Pathways & Interactions for HMGCL Gene

genes like me logo Genes that share pathways with HMGCL: view

UniProtKB/Swiss-Prot P35914-HMGCL_HUMAN

  • Pathway: Metabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from (S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1.

Gene Ontology (GO) - Biological Process for HMGCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006552 leucine catabolic process IBA,TAS 8027038
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IDA,IBA 8027038
GO:0006637 acyl-CoA metabolic process IEA --
genes like me logo Genes that share ontologies with HMGCL: view

No data available for SIGNOR curated interactions for HMGCL Gene

Drugs & Compounds for HMGCL Gene

(6) Drugs for HMGCL Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Pharma Full agonist, Agonist 141
3-hydroxyglutaric acid Experimental Pharma Target 0
Acetoacetic acid Experimental Pharma 0
Meglutol Experimental Pharma 0

(6) Additional Compounds for HMGCL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-hydroxy-3-methylglutaryl-coa
  • (S)-3-Hydroxy-3-methylglutaryl-CoA
  • (S)-3-Hydroxy-3-methylglutaryl-coenzyme A
  • 3-Hydroxy-3-methyl-glutaryl-CoA
  • 3-Hydroxy-3-methyl-glutaryl-coenzyme A
  • 3-Hydroxy-3-methylglutaryl-coenzyme A
1553-55-5
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
3-Hydroxy-3-(4-methylpent-3-en-1-yl)glutaryl-CoA
  • 3-Hydroxy-3-isohexeneylglutaryl-CoA
7-Methyl-3-oxo-6-octenoyl-CoA
  • 7-Methyl-3-oxo-6-octenoyl-CoA
genes like me logo Genes that share compounds with HMGCL: view

Transcripts for HMGCL Gene

mRNA/cDNA for HMGCL Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
3 RNACentral transcripts :
1 LncBook transcripts :
2 LNCipedia transcripts :

CRISPR Products

Clone Products

  • Addgene plasmids for HMGCL

Alternative Splicing Database (ASD) splice patterns (SP) for HMGCL Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - - - - - - -
SP2: - - - -
SP3: - - - - - - -
SP4: -
SP5: - - - - - -
SP6: - -
SP7:

Relevant External Links for HMGCL Gene

GeneLoc Exon Structure for
HMGCL

Expression for HMGCL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HMGCL Gene

mRNA differential expression in normal tissues according to GTEx for HMGCL Gene

This gene is overexpressed in Liver (x8.3).

Protein differential expression in normal tissues from HIPED for HMGCL Gene

This gene is overexpressed in Liver, secretome (16.0) and Liver (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HMGCL Gene



Protein tissue co-expression partners for HMGCL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HMGCL

SOURCE GeneReport for Unigene cluster for HMGCL Gene:

Hs.533444

mRNA Expression by UniProt/SwissProt for HMGCL Gene:

P35914-HMGCL_HUMAN
Tissue specificity: Highest expression in liver. Expressed in pancreas, kidney, intestine, testis, fibroblasts and lymphoblasts. Very low expression in brain and skeletal muscle. The relative expression of isoform 2 (at mRNA level) is highest in heart (30%), skeletal muscle (22%), and brain (14%).

Evidence on tissue expression from TISSUES for HMGCL Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Muscle(4.3)
  • Kidney(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HMGCL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • liver
Pelvis:
  • penis
  • testicle
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with HMGCL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HMGCL Gene

Orthologs for HMGCL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HMGCL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMGCL 31 30
  • 99.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HMGCL 31 30
  • 88.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HMGCL 31 30
  • 88.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hmgcl 17 31 30
  • 84.92 (n)
rat
(Rattus norvegicus)
Mammalia Hmgcl 30
  • 84.62 (n)
oppossum
(Monodelphis domestica)
Mammalia HMGCL 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMGCL 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMGCL 31 30
  • 75.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMGCL 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494904 30
  • 68.92 (n)
zebrafish
(Danio rerio)
Actinopterygii hmgcl 31 30
  • 69.57 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta CG10399 31 32 30
  • 60.82 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008717 30
  • 59.66 (n)
worm
(Caenorhabditis elegans)
Secernentea Y71G12B.10 31 32 30
  • 55.77 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G26800 30
  • 61.43 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.372 30
rice
(Oryza sativa)
Liliopsida Os01g0269000 30
  • 62.34 (n)
Os.17868 30
barley
(Hordeum vulgare)
Liliopsida Hv.1703 30
corn
(Zea mays)
Liliopsida Zm.6728 30
wheat
(Triticum aestivum)
Liliopsida Ta.9483 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToMany
Species where no ortholog for HMGCL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for HMGCL Gene

ENSEMBL:
Gene Tree for HMGCL (if available)
TreeFam:
Gene Tree for HMGCL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HMGCL: view image

Paralogs for HMGCL Gene

Paralogs for HMGCL Gene

(2) SIMAP similar genes for HMGCL Gene using alignment to 6 proteins:

  • HMGCL_HUMAN
  • B1AK13_HUMAN
  • D6REN8_HUMAN
  • G8FGB4_HUMAN
  • H0Y2L7_HUMAN
  • L8EC54_HUMAN
genes like me logo Genes that share paralogs with HMGCL: view

Variants for HMGCL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HMGCL Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
644429 Uncertain Significance: Deficiency of hydroxymethylglutaryl-CoA lyase 23,804,476(-) G/T MISSENSE_VARIANT
649085 Uncertain Significance: Deficiency of hydroxymethylglutaryl-CoA lyase 23,808,261(-) C/T SYNONYMOUS_VARIANT
652537 Uncertain Significance: Deficiency of hydroxymethylglutaryl-CoA lyase 23,814,217(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
658523 Uncertain Significance: Deficiency of hydroxymethylglutaryl-CoA lyase 23,817,510(-) G/T MISSENSE_VARIANT
663224 Uncertain Significance: Deficiency of hydroxymethylglutaryl-CoA lyase 23,810,795(-) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HMGCL Gene

Structural Variations from Database of Genomic Variants (DGV) for HMGCL Gene

Variant ID Type Subtype PubMed ID
nsv1113088 CNV deletion 24896259

Variation tolerance for HMGCL Gene

Residual Variation Intolerance Score: 22.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HMGCL Gene

Human Gene Mutation Database (HGMD)
HMGCL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMGCL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMGCL Gene

Disorders for HMGCL Gene

MalaCards: The human disease database

(14) MalaCards diseases for HMGCL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HMGCL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HMGCL_HUMAN
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]: An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases. {ECO:0000269 PubMed:11129331, ECO:0000269 PubMed:12746442, ECO:0000269 PubMed:16601870, ECO:0000269 PubMed:17173698, ECO:0000269 PubMed:17459752, ECO:0000269 PubMed:19036343, ECO:0000269 PubMed:19177531, ECO:0000269 PubMed:8798725, ECO:0000269 PubMed:9463337, ECO:0000269 PubMed:9784232}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HMGCL Gene

defective ketogenesis characterized by recurrent non ketotic hypoglycemia with acidosis,hyperammonemia and hydroxymethylglutaricaciduria

Additional Disease Information for HMGCL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HMGCL: view

Publications for HMGCL Gene

  1. Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. (PMID: 19177531) Menao S … Pié J (Human mutation 2009) 3 4 23 54
  2. C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity. (PMID: 17459752) Carrasco P … Casals N (Molecular genetics and metabolism 2007) 3 4 23 54
  3. Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. (PMID: 17173698) Al-Sayed M … Meyer BF (BMC medical genetics 2006) 3 4 23 54
  4. Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization. (PMID: 15122894) Tuinstra RL … Miziorko HM (Biochemistry 2004) 3 4 23 54
  5. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. (PMID: 9463337) Mitchell GA … Miziorko H (American journal of human genetics 1998) 3 4 23 54

Products for HMGCL Gene

Sources for HMGCL Gene