Details for: HMGCL

Gene ID: 3155

Symbol: HMGCL

Ensembl ID: ENSG00000117305

Description: 3-hydroxy-3-methylglutaryl-CoA lyase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 157.3176
    Cell Significance Index: -24.4700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 90.0477
    Cell Significance Index: -22.8400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 58.9395
    Cell Significance Index: -24.2800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 58.2688
    Cell Significance Index: -27.5100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 53.3406
    Cell Significance Index: -21.6700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 50.1375
    Cell Significance Index: -25.7900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 41.0270
    Cell Significance Index: -27.5300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 22.7915
    Cell Significance Index: -21.7600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.6739
    Cell Significance Index: -25.4900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.9026
    Cell Significance Index: -21.1700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.5876
    Cell Significance Index: -26.0000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.3167
    Cell Significance Index: -16.3300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.4412
    Cell Significance Index: -9.7200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.0644
    Cell Significance Index: 123.9400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0122
    Cell Significance Index: 13.8100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9901
    Cell Significance Index: 68.4700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.9225
    Cell Significance Index: 8.5000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8409
    Cell Significance Index: 43.6800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7520
    Cell Significance Index: 20.1500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.7114
    Cell Significance Index: 5.6800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6899
    Cell Significance Index: 376.7900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6507
    Cell Significance Index: 129.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6337
    Cell Significance Index: 114.2400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5731
    Cell Significance Index: 26.7200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5553
    Cell Significance Index: 25.1700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4999
    Cell Significance Index: 10.8300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4349
    Cell Significance Index: 53.4800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.4206
    Cell Significance Index: 7.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3497
    Cell Significance Index: 48.0300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3090
    Cell Significance Index: 4.6300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2860
    Cell Significance Index: 57.3800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2104
    Cell Significance Index: 26.9700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2101
    Cell Significance Index: 5.7200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1948
    Cell Significance Index: 69.8700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1936
    Cell Significance Index: 85.5900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1787
    Cell Significance Index: 4.7000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1617
    Cell Significance Index: 111.8300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1154
    Cell Significance Index: 6.0600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1070
    Cell Significance Index: 96.5800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1005
    Cell Significance Index: 2.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0915
    Cell Significance Index: 5.7700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0895
    Cell Significance Index: 0.7300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0894
    Cell Significance Index: 5.7700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0755
    Cell Significance Index: 14.3700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0689
    Cell Significance Index: 1.1600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0672
    Cell Significance Index: 7.9300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0659
    Cell Significance Index: 5.0600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0577
    Cell Significance Index: 4.0800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0397
    Cell Significance Index: 3.9300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0396
    Cell Significance Index: 74.6600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0283
    Cell Significance Index: 0.9100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0188
    Cell Significance Index: 0.9800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0175
    Cell Significance Index: 2.9800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0172
    Cell Significance Index: 12.6000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0158
    Cell Significance Index: 10.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0071
    Cell Significance Index: 11.0000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0062
    Cell Significance Index: 11.3500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0045
    Cell Significance Index: 0.1200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0026
    Cell Significance Index: -1.9500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0034
    Cell Significance Index: -0.2500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0049
    Cell Significance Index: -6.7100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0165
    Cell Significance Index: -7.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0238
    Cell Significance Index: -2.4300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0250
    Cell Significance Index: -1.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0265
    Cell Significance Index: -19.6100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0265
    Cell Significance Index: -0.7400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0356
    Cell Significance Index: -5.1700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0360
    Cell Significance Index: -20.3300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0471
    Cell Significance Index: -29.3800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0533
    Cell Significance Index: -15.3300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0584
    Cell Significance Index: -2.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0686
    Cell Significance Index: -7.9900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0711
    Cell Significance Index: -2.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0760
    Cell Significance Index: -9.8200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1123
    Cell Significance Index: -12.8700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1150
    Cell Significance Index: -1.9300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1409
    Cell Significance Index: -3.6000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1422
    Cell Significance Index: -29.9500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1442
    Cell Significance Index: -8.0900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1504
    Cell Significance Index: -11.9100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1684
    Cell Significance Index: -3.8900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1966
    Cell Significance Index: -3.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2122
    Cell Significance Index: -13.0400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2150
    Cell Significance Index: -4.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2210
    Cell Significance Index: -23.0100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2440
    Cell Significance Index: -7.0300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.2484
    Cell Significance Index: -3.5600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2526
    Cell Significance Index: -7.4200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2613
    Cell Significance Index: -2.7100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3085
    Cell Significance Index: -7.9300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3144
    Cell Significance Index: -15.8900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3203
    Cell Significance Index: -21.5400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3371
    Cell Significance Index: -9.9300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3482
    Cell Significance Index: -5.1400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3901
    Cell Significance Index: -17.2600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4485
    Cell Significance Index: -27.5000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4487
    Cell Significance Index: -8.7600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4683
    Cell Significance Index: -17.7400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4697
    Cell Significance Index: -11.7400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5365
    Cell Significance Index: -14.3500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The HMGCL gene is characterized by its high expression levels in cells involved in lipid metabolism, including pancreatic A cells, which are responsible for the production of glucagon, a hormone that regulates glucose levels. The enzyme's ability to catalyze the conversion of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to acetyl-CoA is essential for the production of ketone bodies, which are then utilized by the brain, heart, and other tissues as an alternative energy source. The HMGCL enzyme is also involved in the catabolism of leucine and the synthesis of ketone bodies, highlighting its critical role in lipid metabolism. **Pathways and Functions:** The HMGCL enzyme is involved in several key pathways, including: 1. **Ketone Body Biosynthetic Process:** The HMGCL enzyme catalyzes the conversion of HMG-CoA to acetyl-CoA, which is then used to produce ketone bodies. 2. **Ketone Body Metabolism:** The HMGCL enzyme plays a crucial role in the metabolism of ketone bodies, which are produced in the liver and utilized by various tissues as an alternative energy source. 3. **Leucine Catabolic Process:** The HMGCL enzyme is involved in the catabolism of leucine, a branched-chain amino acid that is converted to HMG-CoA, which is then converted to acetyl-CoA by the HMGCL enzyme. 4. **Lipid Metabolic Process:** The HMGCL enzyme is involved in the synthesis and breakdown of lipids, highlighting its critical role in lipid metabolism. **Clinical Significance:** The HMGCL gene has significant implications for various diseases, including: 1. **Diabetes Mellitus:** The HMGCL enzyme plays a crucial role in the regulation of glucose levels, and mutations in the HMGCL gene have been linked to diabetes mellitus. 2. **Ketosis:** The HMGCL enzyme is essential for the production of ketone bodies, which are produced in the liver during fasting or low-carbohydrate diets. Abnormalities in the HMGCL gene have been linked to ketosis, a condition characterized by the accumulation of ketone bodies in the blood. 3. **Neurological Disorders:** The HMGCL enzyme has been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and Huntington's disease, highlighting its potential role in the pathogenesis of these conditions. In conclusion, the HMGCL gene plays a critical role in lipid metabolism, and its dysregulation has significant implications for various diseases, including diabetes mellitus, ketosis, and neurological disorders. Further research is necessary to fully understand the functions of the HMGCL enzyme and its role in human disease.

Genular Protein ID: 1532637345

Symbol: HMGCL_HUMAN

Name: Hydroxymethylglutaryl-CoA lyase, mitochondrial

UniProtKB Accession Codes:

P35914 B4DUP4 B7UCC6 D3Y5K7 Q6IBC0 Q96FP8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 12 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 1 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8440722

Title: 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

DOI: 10.1016/s0021-9258(18)53620-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8617516

Title: 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

DOI: 10.1006/geno.1996.0164

PubMed ID: 21952825

Title: Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.

PubMed ID: 21952825

DOI: 10.1007/s11033-011-1270-8

PubMed ID: 7527399

Title: 3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes.

PubMed ID: 7527399

DOI: 10.1016/s0021-9258(18)31784-8

PubMed ID: 8566388

Title: Ketogenic flux from lipids and leucine, assessment in 3-hydroxy-3-methylglutaryl CoA lyase deficiency.

PubMed ID: 8566388

DOI: 10.1042/bst023489s

PubMed ID: 12464283

Title: Investigation of the oligomeric status of the peroxisomal isoform of human 3-hydroxy-3-methylglutaryl-CoA lyase.

PubMed ID: 12464283

DOI: 10.1016/s0003-9861(02)00584-2

PubMed ID: 12874287

Title: Investigation of conserved acidic residues in 3-hydroxy-3-methylglutaryl-CoA lyase: implications for human disease and for functional roles in a family of related proteins.

PubMed ID: 12874287

DOI: 10.1074/jbc.m304472200

PubMed ID: 15122894

Title: 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

DOI: 10.1021/bi0499765

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22865860

Title: Identification and characterization of an extramitochondrial human 3-Hydroxy-3-methylglutaryl-CoA lyase.

PubMed ID: 22865860

DOI: 10.1074/jbc.m112.393231

PubMed ID: 22847177

Title: Characterization of a novel HMG-CoA Lyase enzyme with a dual location in endoplasmic reticulum and cytosol.

PubMed ID: 22847177

DOI: 10.1194/jlr.m025700

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 16330550

Title: Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.

PubMed ID: 16330550

DOI: 10.1074/jbc.m506880200

PubMed ID: 8798725

Title: Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine-233 as an active site residue.

PubMed ID: 8798725

DOI: 10.1074/jbc.271.40.24604

PubMed ID: 9463337

Title: 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

DOI: 10.1086/301730

PubMed ID: 9784232

Title: Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.

PubMed ID: 9784232

DOI: 10.1006/abbi.1998.0788

PubMed ID: 11129331

Title: Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

PubMed ID: 11129331

DOI: 10.1007/s004390000363

PubMed ID: 12746442

Title: Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.

PubMed ID: 12746442

DOI: 10.1074/jbc.m304276200

PubMed ID: 17173698

Title: Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.

PubMed ID: 17173698

DOI: 10.1186/1471-2350-7-86

PubMed ID: 16601870

Title: A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.

PubMed ID: 16601870

DOI: 10.1007/s10545-006-0138-x

PubMed ID: 17459752

Title: C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.

PubMed ID: 17459752

DOI: 10.1016/j.ymgme.2007.03.007

PubMed ID: 19036343

Title: Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.

PubMed ID: 19036343

DOI: 10.1016/j.cca.2008.11.004

PubMed ID: 19177531

Title: Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.

PubMed ID: 19177531

DOI: 10.1002/humu.20966

Sequence Information:

  • Length: 325
  • Mass: 34360
  • Checksum: B82B2488A10D6980
  • Sequence:
    • MAAMRKALPR RLVGLASLRA VSTSSMGTLP KRVKIVEVGP RDGLQNEKNI VSTPVKIKLI 
DMLSEAGLSV IETTSFVSPK WVPQMGDHTE VLKGIQKFPG INYPVLTPNL KGFEAAVAAG 
AKEVVIFGAA SELFTKKNIN CSIEESFQRF DAILKAAQSA NISVRGYVSC ALGCPYEGKI 
SPAKVAEVTK KFYSMGCYEI SLGDTIGVGT PGIMKDMLSA VMQEVPLAAL AVHCHDTYGQ 
ALANTLMALQ MGVSVVDSSV AGLGGCPYAQ GASGNLATED LVYMLEGLGI HTGVNLQKLL 
EAGNFICQAL NRKTSSKVAQ ATCKL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.