Details for: HMGCR

Gene ID: 3156

Symbol: HMGCR

Ensembl ID: ENSG00000113161

Description: 3-hydroxy-3-methylglutaryl-CoA reductase

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: 194.8629
    Cell Significance Index: -30.3100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 118.9071
    Cell Significance Index: -30.1600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 70.8502
    Cell Significance Index: -33.4500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 66.0419
    Cell Significance Index: -26.8300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 28.0599
    Cell Significance Index: -26.7900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 24.9563
    Cell Significance Index: -30.7700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.4452
    Cell Significance Index: -30.6600
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 7.8914
    Cell Significance Index: 10.2100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.8268
    Cell Significance Index: -30.8900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 7.3873
    Cell Significance Index: 197.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.5561
    Cell Significance Index: 308.8200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4603
    Cell Significance Index: 158.8400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.4105
    Cell Significance Index: 282.9400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.3612
    Cell Significance Index: 12.5400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.3226
    Cell Significance Index: 215.1100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.2766
    Cell Significance Index: 697.1800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.0155
    Cell Significance Index: 28.9800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9846
    Cell Significance Index: 55.2500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9766
    Cell Significance Index: 50.7300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.9683
    Cell Significance Index: 43.8900
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.8544
    Cell Significance Index: 8.9000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7857
    Cell Significance Index: 20.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7610
    Cell Significance Index: 137.1900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6998
    Cell Significance Index: 15.1600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6728
    Cell Significance Index: 9.1800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6437
    Cell Significance Index: 16.9300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6256
    Cell Significance Index: 76.9200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5093
    Cell Significance Index: 182.6900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4978
    Cell Significance Index: 34.4300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4683
    Cell Significance Index: 46.3300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4099
    Cell Significance Index: 11.8100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3990
    Cell Significance Index: 28.2200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3824
    Cell Significance Index: 25.7100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3356
    Cell Significance Index: 232.0900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3306
    Cell Significance Index: 146.1800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3234
    Cell Significance Index: 19.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2230
    Cell Significance Index: 11.7100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1937
    Cell Significance Index: 36.8600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1875
    Cell Significance Index: 5.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1682
    Cell Significance Index: 7.4400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1496
    Cell Significance Index: 20.5500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1355
    Cell Significance Index: 3.1300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1242
    Cell Significance Index: 6.4700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1221
    Cell Significance Index: 4.6300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1013
    Cell Significance Index: 3.5600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0789
    Cell Significance Index: 71.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0577
    Cell Significance Index: 2.7100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0540
    Cell Significance Index: 9.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0510
    Cell Significance Index: 69.4000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0253
    Cell Significance Index: 38.9300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0248
    Cell Significance Index: 46.7100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0122
    Cell Significance Index: 9.2500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0097
    Cell Significance Index: 17.9600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0042
    Cell Significance Index: 2.7000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0051
    Cell Significance Index: -3.7600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0119
    Cell Significance Index: -8.7600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0200
    Cell Significance Index: -12.4900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0315
    Cell Significance Index: -0.5400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0382
    Cell Significance Index: -17.3500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0389
    Cell Significance Index: -2.9000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0393
    Cell Significance Index: -22.1400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0409
    Cell Significance Index: -0.8700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0417
    Cell Significance Index: -5.3900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0430
    Cell Significance Index: -2.0100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0518
    Cell Significance Index: -6.6400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0671
    Cell Significance Index: -2.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0724
    Cell Significance Index: -15.2500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0808
    Cell Significance Index: -11.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0888
    Cell Significance Index: -25.5600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0946
    Cell Significance Index: -10.8400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1005
    Cell Significance Index: -11.8500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1292
    Cell Significance Index: -13.2000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1445
    Cell Significance Index: -9.3200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1507
    Cell Significance Index: -17.2100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1664
    Cell Significance Index: -10.4900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1769
    Cell Significance Index: -20.6100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1801
    Cell Significance Index: -13.8200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1820
    Cell Significance Index: -3.9900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1916
    Cell Significance Index: -4.0100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1985
    Cell Significance Index: -5.8300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2452
    Cell Significance Index: -5.8800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2454
    Cell Significance Index: -3.0600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2595
    Cell Significance Index: -7.4400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.2724
    Cell Significance Index: -2.1000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2826
    Cell Significance Index: -29.4300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2907
    Cell Significance Index: -9.3100
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.2994
    Cell Significance Index: -1.8800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3103
    Cell Significance Index: -4.6500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3544
    Cell Significance Index: -28.0700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3645
    Cell Significance Index: -6.1000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4129
    Cell Significance Index: -11.2400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4191
    Cell Significance Index: -5.2900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4375
    Cell Significance Index: -26.8200
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.4573
    Cell Significance Index: -3.7800
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.4600
    Cell Significance Index: -2.7300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.4734
    Cell Significance Index: -2.8600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.5196
    Cell Significance Index: -8.7400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5290
    Cell Significance Index: -17.3200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5542
    Cell Significance Index: -17.6500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5601
    Cell Significance Index: -14.0000

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:** 1. **Mechanism of Action:** HMGCR catalyzes the conversion of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonate, a key intermediate in the biosynthesis of cholesterol. 2. **Subcellular Localization:** HMGCR is primarily localized in the endoplasmic reticulum, where it plays a crucial role in lipid metabolism. 3. **Regulation:** HMGCR is regulated by various factors, including sterol regulatory element-binding protein (SREBP) and peroxisome proliferator-activated receptor-alpha (PPARα). 4. **Signaling Pathways:** HMGCR is involved in various signaling pathways, including the SREBP and PPARα pathways, which regulate cholesterol biosynthesis and lipid metabolism. **Pathways and Functions:** HMGCR is involved in several metabolic pathways, including: 1. **Cholesterol Biosynthesis:** HMGCR plays a crucial role in the biosynthesis of cholesterol, which is essential for various cellular processes, including cell growth, differentiation, and survival. 2. **Lipid Metabolism:** HMGCR is involved in the regulation of lipid metabolism, including the synthesis and degradation of lipids. 3. **Stearoyl-CoA Desaturase (SCD) Pathway:** HMGCR is involved in the regulation of the SCD pathway, which is essential for the biosynthesis of unsaturated fatty acids. 4. **Isoprenoid Biosynthesis:** HMGCR is involved in the biosynthesis of isoprenoids, which are essential for various cellular processes, including cell signaling and membrane trafficking. 5. **Neurotransmitter Synthesis:** HMGCR is involved in the regulation of neurotransmitter synthesis, including the synthesis of dopamine and serotonin. **Clinical Significance:** Dysregulation of HMGCR has been implicated in various diseases, including: 1. **Atherosclerosis:** HMGCR is involved in the regulation of cholesterol biosynthesis, and dysregulation of HMGCR has been implicated in the development of atherosclerosis. 2. **Neurodegenerative Diseases:** HMGCR is involved in the regulation of neurotransmitter synthesis and cellular signaling pathways, and dysregulation of HMGCR has been implicated in the development of neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. 3. **Cancer:** HMGCR is involved in the regulation of lipid metabolism and cellular signaling pathways, and dysregulation of HMGCR has been implicated in the development of cancer. 4. **Metabolic Syndrome:** HMGCR is involved in the regulation of lipid metabolism, and dysregulation of HMGCR has been implicated in the development of metabolic syndrome. In conclusion, the HMGCR gene plays a crucial role in various cellular processes, including lipid metabolism, cell growth, and differentiation. Dysregulation of HMGCR has been implicated in various diseases, highlighting the importance of this enzyme in human health and disease.

Genular Protein ID: 2759421824

Symbol: HMDH_HUMAN

Name: 3-hydroxy-3-methylglutaryl-coenzyme A reductase

UniProtKB Accession Codes:

P04035 B7Z3Y9 Q8N190

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 20 DrugCentral 1 EC 1 ELM 1 EMBL 17 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 4 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 22 PDBsum 22 PIR 1 PRINTS 1 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 4 RefSeq 4 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissLipids 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2991281

Title: Human 3-hydroxy-3-methylglutaryl coenzyme A reductase. Conserved domains responsible for catalytic activity and sterol-regulated degradation.

PubMed ID: 2991281

DOI: 10.1016/s0021-9258(17)39242-6

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 6995544

Title: Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth.

PubMed ID: 6995544

PubMed ID: 12535518

Title: Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain.

PubMed ID: 12535518

DOI: 10.1016/s1097-2765(02)00822-5

PubMed ID: 17180682

Title: Localization of the pre-squalene segment of the isoprenoid biosynthetic pathway in mammalian peroxisomes.

PubMed ID: 17180682

DOI: 10.1007/s00418-006-0254-6

PubMed ID: 19458199

Title: Dislocation of HMG-CoA reductase and Insig-1, two polytopic endoplasmic reticulum proteins, en route to proteasomal degradation.

PubMed ID: 19458199

DOI: 10.1091/mbc.e08-09-0953

PubMed ID: 21778231

Title: Metabolically regulated endoplasmic reticulum-associated degradation of 3-hydroxy-3-methylglutaryl-CoA reductase: evidence for requirement of a geranylgeranylated protein.

PubMed ID: 21778231

DOI: 10.1074/jbc.m111.278036

PubMed ID: 21357570

Title: Epigallocatechin-3-gallate potently inhibits the in vitro activity of hydroxy-3-methyl-glutaryl-CoA reductase.

PubMed ID: 21357570

DOI: 10.1194/jlr.m011817

PubMed ID: 22143767

Title: Sterol-induced degradation of HMG CoA reductase depends on interplay of two Insigs and two ubiquitin ligases, gp78 and Trc8.

PubMed ID: 22143767

DOI: 10.1073/pnas.1112831108

PubMed ID: 22989091

Title: A novel 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) splice variant with an alternative exon 1 potentially encoding an extended N-terminus.

PubMed ID: 22989091

DOI: 10.1186/1471-2199-13-29

PubMed ID: 23169578

Title: The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymes.

PubMed ID: 23169578

DOI: 10.1002/humu.22230

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: 10698924

Title: Crystal structure of the catalytic portion of human HMG-CoA reductase: insights into regulation of activity and catalysis.

PubMed ID: 10698924

DOI: 10.1093/emboj/19.5.819

PubMed ID: 11349148

Title: Structural mechanism for statin inhibition of HMG-CoA reductase.

PubMed ID: 11349148

DOI: 10.1126/science.1059344

PubMed ID: 18540668

Title: Thermodynamic and structure guided design of statin based inhibitors of 3-hydroxy-3-methylglutaryl coenzyme A reductase.

PubMed ID: 18540668

DOI: 10.1021/jm7015057

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 18193044

Title: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

PubMed ID: 18193044

DOI: 10.1038/ng.75

PubMed ID: 18354102

Title: Polymorphisms associated with cholesterol and risk of cardiovascular events.

PubMed ID: 18354102

DOI: 10.1056/nejmoa0706728

PubMed ID: 20686565

Title: Biological, clinical and population relevance of 95 loci for blood lipids.

PubMed ID: 20686565

DOI: 10.1038/nature09270

PubMed ID: 37167966

Title: Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

PubMed ID: 37167966

DOI: 10.1016/j.ajhg.2023.04.006

PubMed ID: 36745799

Title: Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.

PubMed ID: 36745799

DOI: 10.1073/pnas.2217831120

Sequence Information:

  • Length: 888
  • Mass: 97476
  • Checksum: 49B610DCCCFA26B6
  • Sequence:
    • MLSRLFRMHG LFVASHPWEV IVGTVTLTIC MMSMNMFTGN NKICGWNYEC PKFEEDVLSS 
DIIILTITRC IAILYIYFQF QNLRQLGSKY ILGIAGLFTI FSSFVFSTVV IHFLDKELTG 
LNEALPFFLL LIDLSRASTL AKFALSSNSQ DEVRENIARG MAILGPTFTL DALVECLVIG 
VGTMSGVRQL EIMCCFGCMS VLANYFVFMT FFPACVSLVL ELSRESREGR PIWQLSHFAR 
VLEEEENKPN PVTQRVKMIM SLGLVLVHAH SRWIADPSPQ NSTADTSKVS LGLDENVSKR 
IEPSVSLWQF YLSKMISMDI EQVITLSLAL LLAVKYIFFE QTETESTLSL KNPITSPVVT 
QKKVPDNCCR REPMLVRNNQ KCDSVEEETG INRERKVEVI KPLVAETDTP NRATFVVGNS 
SLLDTSSVLV TQEPEIELPR EPRPNEECLQ ILGNAEKGAK FLSDAEIIQL VNAKHIPAYK 
LETLMETHER GVSIRRQLLS KKLSEPSSLQ YLPYRDYNYS LVMGACCENV IGYMPIPVGV 
AGPLCLDEKE FQVPMATTEG CLVASTNRGC RAIGLGGGAS SRVLADGMTR GPVVRLPRAC 
DSAEVKAWLE TSEGFAVIKE AFDSTSRFAR LQKLHTSIAG RNLYIRFQSR SGDAMGMNMI 
SKGTEKALSK LHEYFPEMQI LAVSGNYCTD KKPAAINWIE GRGKSVVCEA VIPAKVVREV 
LKTTTEAMIE VNINKNLVGS AMAGSIGGYN AHAANIVTAI YIACGQDAAQ NVGSSNCITL 
MEASGPTNED LYISCTMPSI EIGTVGGGTN LLPQQACLQM LGVQGACKDN PGENARQLAR 
IVCGTVMAGE LSLMAALAAG HLVKSHMIHN RSKINLQDLQ GACTKKTA

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.