Property Summary

NCBI Gene PubMed Count 40
Grant Count 1
R01 Count 1
Funding $55,321.43
PubMed Score 83.09
PubTator Score 112.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 1.300 0.001
colon cancer -1.100 0.003

Synonym

Accession P35914 B4DUP4 B7UCC6 D3Y5K7 Q6IBC0 Q96FP8 HL
Symbols HL

Gene

PANTHER Protein Class (1)

 Grant Application (1)

PDB

2CW6   3MP3   3MP4   3MP5  

Gene RIF (20)

PMID Text
25872961 this is the first study describing HMGCL deficiency caused by uniparental disomy.
24333427 This efficient UPLC-MS/MS assay permits rapid and high sensitive determination of HMGCR enzyme activity, tracing potential alterations in cholesterol biosynthesis.
23465862 in the 2 stop codon mutations c.109G>T and c.504_505delCT studied, the stop codon does not appear to be the cause of aberrant splicing; the mutation c.504_505delCT causes 2 mRNA transcripts with a stop codon that generate two simultaneous nonsense-mediated mRNA decay phenomena
22865860 analysis of HMGCLL1 as an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase and comparison with MHGCL
21952825 An alternative transcript of HMGCS2 carrying a deletion of exon 4, and two alternative transcripts of HMGCL with deletions of exons 5 and 6, and exons 5, 6 and 7, respectively, were detected.
21514269 levels of enzyme activity do not strongly correlate with formation of inter-subunit adducts by HMGCL mutants. C170S, C266S, and C323S proteins do not form inter-subunit disulfide adducts but such an adduct is restored in the C170S/C174S double mutant.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20558737 Crystal structures of ternary complexes of WT HMGCL with the competitive inhibitor 3-hydroxyglutaryl-CoA and of the catalytically deficient HMGCL R41M mutant with substrate HMG-CoA have been determined to 2.4 and 2.2 A.
19932602 We report on a new case of 3-hydroxy-3-methylglutaric aciduria particular by its late onset in a 3-year-old patient. Molecular investigation identified two new sequence modifications in the HMGCL gene: c.494G>A (p.Arg165Gln) and c.820G>A (p.Gly274Arg).
19177531 Finding that all identified missense mutations cause a >95% decrease in the enzyme activity, indicates that the disease appears only in very severe genotypes.
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AA Sequence

MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSV      1 - 70
IETTSFVSPKWVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNIN     71 - 140
CSIEESFQRFDAILKAAQSANISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGT    141 - 210
PGIMKDMLSAVMQEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATED    211 - 280
LVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQATCKL                             281 - 325
//

Text Mined References (51)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25872961 2015 Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
24333427 2014 Measurement of HMG CoA reductase activity in different human cell lines by ultra-performance liquid chromatography tandem mass spectrometry.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23465862 2013 Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22865860 2012 Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase.
22847177 2012 Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.
21952825 2012 Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
21514269 2011 Influence of multiple cysteines on human 3-hydroxy-3-methylglutaryl-CoA lyase activity and formation of inter-subunit adducts.
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