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The protein encoded by HMGCL belongs to the HMG-CoA lyase family. Additionally we are shipping HMGCL Antibodies (109) and HMGCL Kits (4) and many more products for this protein.
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Data suggest that HMGCS1 (HMG-CoA synthase (show HMGCS1 Proteins) 1) signals through ketogenesis/acetoacetate to promote cell proliferation and BRAF (show BRAF Proteins)(V600E)-dependent MEK1 (show MAP2K1 Proteins) activation in BRAF (show BRAF Proteins)(V600E)-positive melanoma and colon cancer cells; HMGCS1 (show HMGCS1 Proteins) co-localizes with HMGCL (HMG-CoA lyase) and BRAF (show BRAF Proteins)(V600E) in cytosol of melanoma and colon cancer cells. (BRAF (show BRAF Proteins) = proto-oncogene (show RAB1A Proteins) protein B (show LEPREL2 Proteins)-raf (show SNRPE Proteins))
The genetic analysis revealed a novel homozygote deletion in exon 3 and 4 in HMGCL gene. HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly.
this is the first study describing HMGCL deficiency caused by uniparental disomy.
This efficient UPLC-MS/MS assay permits rapid and high sensitive determination of HMGCR (show HMGCR Proteins) enzyme activity, tracing potential alterations in cholesterol biosynthesis.
analysis of HMGCLL1 (show HMGCLL1 Proteins) as an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase and comparison with MHGCL
An alternative transcript of HMGCS2 (show HMGCS2 Proteins) 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.
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.
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.
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).
A role is suggested for arginine-41 in deprotonation or enolization of acetyldithio-CoA, implicating this residue in the HMG (show SSRP1 Proteins)-CoA cleavage reaction chemistry that leads to acetyl-CoA (show LPCAT2 Proteins) product formation.
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.
3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase
, 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
, 3-hydroxy-3-methylglutarate-CoA lyase
, HMG-CoA lyase
, hydroxymethylglutaryl-CoA lyase, mitochondrial
, 3-hydroxy-3-methylglutaryl-CoA lyase
, mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
, 3-hydroxy-3-methylglutaryl-Coenzyme A lyase