present in Gene: HMGCL
present in Chromosome: 1
Position on Chromosome: 23817520
Alleles of this Variant: C/G
rs121964996 in
HMGCL gene and
HMG CoA lyase deficiency
PMID 8798725 1996 Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.
PMID 19036343 2009 Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
PMID 16601870 2006 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.
PMID 17459752 2007 C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.
PMID 9784232 1998 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.
PMID 9463337 1998 HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
PMID 17173698 2006 Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
PMID 12746442 2003 Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
PMID 19177531 2009 Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
PMID 11129331 2000 Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.