HMGCL Gene
protein-coding GIFtS: 64
GCID: GC01M024128
|
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase(Previous name: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase )
| |
Aliases
for HMGCL gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase1 2 | | EC 4.1.3.43 8 | | HL1 2 3 | | 3-Hydroxy-3-Methylglutaryl-CoA Lyase2 | | 3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase1 2 | | Hydroxymethylglutaricaciduria1 | | 3-Hydroxy-3-Methylglutarate-CoA Lyase2 3 | | Hydroxymethylglutaryl-CoA Lyase, Mitochondrial2 | | HMG-CoA Lyase2 3 | | Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Lyase2 |
Export aliases for HMGCL gene to outside databasesPrevious GC identifers: GC01M023686 GC01M023199 GC01M023597 GC01M023873 GC01M024001 GC01M022379 |
Summaries
for HMGCL gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for HMGCL:
The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes thefinal step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associatedwith HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been foundfor this gene. (provided by RefSeq, Oct 2009)
UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914Function: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism
|
Genomic Views
for HMGCL gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004610.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HMGCL gene promoter:
STAT4 STAT1beta CUTL1 STAT1alpha CREB deltaCREB HSF2 STAT2 STAT3
Other transcription factors
Search SABiosciences Chromatin IP Primers for HMGCL
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMGCL |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.1-p35 Ensembl cytogenetic band: 1p36.11 HGNC cytogenetic band: 1p36.1-p35HMGCL Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M024128: view genomic region
(about GC identifiers)
Start:
|
24,128,367 bp from pter |
End:
|
24,165,110 bp from pter |
Size:
|
36,744 bases |
Orientation:
|
minus strand |
|
Proteins
for HMGCL gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914 (See
protein sequence)Recommended Name: Hydroxymethylglutaryl-CoA lyase, mitochondrial precursor Size: 325 amino acids; 34360 Da
Cofactor: Divalent metal cations
Subunit: Homodimer; disulfide-linked. Can also form homotetramers
Subcellular location: Mitochondrion matrix. Peroxisome. Note=Unprocessed form is peroxisomal
4 PDB 3D structures from  and Proteopedia  for HMGCL:2CW6 (3D)
3MP3 (3D)
3MP4 (3D)
3MP5 (3D)
Secondary accessions: B4DUP4 Q96FP8Alternative splicing: 2 isoforms: P35914-1 P35914-2 Explore the universe of human proteins at neXtProt for HMGCL: NX_P35914
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P35914
4/14 DME Specific Peptides for HMGCL (P35914) (see all 14)
HMGCL Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000182.2 NP_001159531.1
ENSEMBL proteins: ENSP00000363614 ENSP00000389281 ENSP00000363611 ENSP00000235958 ENSP00000363607 Reactome Protein details: P35914
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
HMGCL for ontologies About GeneDecksing
HMGCL Antibody Products:
Assay Products for HMGCL: |
Protein
Domains /
Families
for HMGCL gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HMGCL for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P35914ProtoNet protein and cluster: P35914 1 Blocks protein family: IPB000138 Hydroxymethylglutaryl-coenzyme A lyase active site
UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914Similarity: Belongs to the HMG-CoA lyase family |
Function
for HMGCL gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914Function: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolismCatalytic activity: (S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetateEnzyme regulation: Stimulated by reducing agents such as dithiothreitol (DTT)Biophysicochemical properties: Kinetic parameters: KM=200 uM for magnesium ion; KM=48 uM for HMG-CoA; Vmax=191umol/min/mg enzyme; Genatlas biochemistry entry for HMGCL:3-hydroxy-3-methylglutaryl-CoA lyase,homodimeric mitochondrial and peroxisomal matrix enzyme,branched chain,last enzymeof ketogenesis from fatty acids and also leucine catabolism,lethal in HMGCL-deficient mice
Enzyme Number (IUBMB): EC 4.1.3.41 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCL (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): HMGCL (NM_000191) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HMGCL | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCL |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCL |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
HMGCL for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Hmgcltm1Gam for HMGCL
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Hmgcl):
HMGCL for phenotypes About GeneDecksing
|
Pathways & Interactions
for HMGCL gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Ketone body metabolism | | | 2 | Metabolism | | | 3 | Peroxisome | | | 4 | Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | | | 5 | Branched-chain amino acid catabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for HMGCL
5 
Reactome Pathways for HMGCL
5 
Kegg Pathways (Kegg details for HMGCL):
UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914Pathway: Metabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from(S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1
HMGCL for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMGCL
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/28 Interacting proteins for HMGCL (P359142, 3 ENSP000003636144) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
About this table
Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table
HMGCL for ontologies About GeneDecksing
|
Drugs & Compounds
for HMGCL gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HMGCL for compounds About GeneDecksing
 Browse Tocris compounds for HMGCL
4 HMDB Compounds for HMGCL About this table
1 DrugBank Compound for HMGCL About this table
6 Novoseek chemical compound relationships for HMGCL gene About this table
Search CenterWatch for drugs/clinical trials and news about HMGCL
|
Transcripts
for HMGCL gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HMGCL gene (2 alternative transcripts): NM_000191.2 NM_001166059.1 Unigene Cluster for HMGCL: 3-hydroxymethyl-3-methylglutaryl-CoA lyase Hs.533444 [show with all ESTs]Unigene Representative Sequence: AK12280111 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000374490(uc001bib.3 uc010oec.2) ENST00000436439(uc021oii.1)
ENST00000374487 ENST00000235958 ENST00000509389(uc009vqs.1) ENST00000496907
ENST00000513148 ENST00000465332 ENST00000479458 ENST00000498698 ENST00000374483(uc001bic.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCL (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): HMGCL (NM_000191) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HMGCL | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCL |
Additional cDNA sequence: AK122801.1 AK300733.1 AK309129.1 AK313869.1 BC010570.1 BC021145.1 BT009792.1 CR456884.1 FJ472654.1 GU433941.1 L07033.1 24/25 DOTS entries (see all 25): DT.216731 DT.100815335 DT.100815338 DT.100024518 DT.100661763 DT.95155278 DT.121382195 DT.95155290 DT.91751665 DT.95155277 DT.121382156 DT.75178439 DT.99995662 DT.91806374 DT.91928535 DT.92022788 DT.95155271 DT.95155276 DT.95155279 DT.97854087 DT.100663977 DT.91668479 DT.100813339 DT.102836787 24/715 AceView cDNA sequences (see all 715): BM746490 BQ223772 CB305984 CB121538 AW631350 AI123937 AI733004 BI826045 AI277057 BM759675 BM980784 BE893713 CA952728 BC050685 BQ277723 BC001273 BF001894 CR611350 BU679335 BE876324 BM750083 CR596991 BM708031 BM851888
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for HMGCL (see all 7) About this scheme
| 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: | | | | | | | | | | | | | | | - | | - | | - | | | | - | | | | - | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for HMGCL
|
Expression
for HMGCL gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HMGCL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGGTTCTTC
About this image
See HMGCL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HMGCL
SOURCE GeneReport for Unigene cluster: Hs.533444
UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914Tissue specificity: Fibroblasts, liver and lymphoblasts
SABiosciences Expression via Pathway-Focused PCR Arrays including HMGCL:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HMGCL
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HMGCL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMGCL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMGCL | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCL |
Orthologs
for HMGCL gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for HMGCL gene from 7/30 species (see all 30) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
HMGCL1 |
3-hydroxymethyl-3-methylglutaryl-CoA lyase |
75.03(n)
78.68(a) |
|
396316 NM_001198714.1 NP_001185643.1 |
lizard
(Anolis carolinensis) |
Reptilia |
HMGCL6 |
-- |
79(a) |
1 ↔ 1 |
GL343498.1(82923-90129) |
zebrafish
(Danio rerio) |
Actinopterygii |
BC046023.12 |
-- |
76.18(n) |
|
394190 BC046023.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG103991 , 3 |
hydroxymethylglutaryl-CoA lyase3
CG103991 |
62(a)3
60.61(n)1
61.36(a)1 |
|
27C73
339781 NM_135245.21 NP_609089.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
Y71G12B.101 , 3 |
Protein Y71G12B.101 |
51(a)3
55.01(n)1
51.82(a)1 |
|
I(1751494-1754316)3
1717381 NM_058488.41 NP_490889.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT2G268001 |
Hydroxymethylglutaryl-CoA lyase |
61.43(n)
64.16(a) |
|
817221 NM_128237.2 NP_565629.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.178682 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
74.1(n) |
|
AK066940.1 |
ENSEMBL Gene Tree for HMGCL (if available)
TreeFam Gene Tree for HMGCL (if available) |
Paralogs
for HMGCL gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for HMGCL gene
- HMGCLL12
2 SIMAP similar genes for HMGCL using alignment to 9 protein entries: HMGCL_HUMAN (see all proteins):HMGCLL1 DKFZp434G1411
HMGCL for paralogs About GeneDecksing
|
Genomic Variants
for HMGCL gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HMGCL (24128367 - 24165110 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HMGCL: --
Human Gene Mutation Database (HGMD): HMGCL
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HMGCL |
|
Disorders
/ Diseases
for HMGCL gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HMGCL for disorders About GeneDecksing
OMIM gene information: 613898
OMIM disorders: --
UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914
Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]; alsoknown as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis andL-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinicalacute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptomssometimes progress to coma, with fatal outcome in some cases
20/21  diseases for HMGCL (see all 21): About MalaCardshmg-coa lyase deficiency 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency maple syrup urine disease propionic acidemia
beta-ketothiolase deficiency ornithine carbamoyltransferase deficiency isovaleric acidemia argininosuccinic aciduria
ketothiolase deficiency multiple carboxylase deficiency reye syndrome homocystinuria
autosomal recessive disease dilated cardiomyopathy retinitis pigmentosa metabolic disorders
phenylketonuria cardiomyopathy retinitis cerebritis
2 diseases from the University of Copenhagen DISEASES database for HMGCL:Organic acidemia Metabolic acidosis 10/12 Novoseek disease relationships for HMGCL gene (see all 12) About this table
Genatlas disease: HMGCL defective ketogenesis characterized by recurrent non ketotic hypoglycemia with acidosis,hyperammonemia andhydroxymethylglutaricaciduria
Genetic Association Database (GAD): HMGCL
Human Genome Epidemiology (HuGE) Navigator: HMGCL (3 documents)
Export disorders for HMGCL gene to outside databases
|
Publications
for HMGCL gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HMGCL gene, integrated from 9 sources (see all 81):
(articles sorted by number of sources associating them with HMGCL) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency. (PubMed id 8440722)1, 2, 9 Mitchell G.A....Miziorko H.M. (1993)
- 3-hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients. (PubMed id 8617516)1, 2, 9 Wang S.P.... Mitchell G.A. (1996)
- 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes. (PubMed id 8102917)1, 3, 9 Wang S....Miziorko H. (1993)
- 3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes. (PubMed id 7527399)1, 2, 9 Ashmarina L.I....Mitchell G.A. (1994)
- Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency. (PubMed id 8978493)1, 3, 9 Buesa C....Hegardt F.G. (1996)
- Ten novel HMGCL mutations in 24 patients of different origin with 3- hydroxy-3-methyl-glutaric aciduria. (PubMed id 19177531)1, 2, 9 Menao S....Pie J. (2009)
- Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization. (PubMed id 15122894)1, 2, 9 Tuinstra R.L....Miziorko H.M. (2004)
- C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity. (PubMed id 17459752)1, 2, 9 Carrasco P....Casals N. (2007)
- Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. (PubMed id 17173698)1, 2, 9 Al-Sayed M....Meyer B.F. (2006)
- HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. (PubMed id 9463337)1, 2, 9 Mitchell G.A....Miziorko H. (1998)
|
External Searches for HMGCL gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing HMGCL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing HMGCL gene
(According to HUGE)
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Specialized Databases showing HMGCL gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for HMGCL | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HMGCL |
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| Patent Information for HMGCL gene:
Search GeneIP for patents involving HMGCL
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for HMGCL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for HMGCL | | OriGene shRNA RFP for HMGCL | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HMGCL | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HMGCL | | | OriGene Protein Over-expression Lysate for HMGCL | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HMGCL | | OriGene 3'-UTR Clone for HMGCL | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCL | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCL | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for HMGCL | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for HMGCL | | OriGene Custom Protein Services for HMGCL | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HMGCL | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HMGCL | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMGCL | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMGCL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMGCL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMGCL |
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| | | | Search Tocris compounds for HMGCL |
| |  |  |  |  | | | | | | Recombinant Protein for HMGCL |
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 | | | HMGCL Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCL |
|  |  |  | | | | ThermoFisher Antibody for HMGCL |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCL |
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