HMGCL

Gene name: 3-hydroxymethyl-3-methylglutaryl-CoA lyase
OMIM ID: 613898
Chromosome location: 1p36.11

Mutations

Disease/Phenotype	3-hydroxy-3-methylglutaryl-coa lyase deficiency
Reference transcript	NM_000191.2
DNA Change	c.109G>T
A.A. Change	p.Glu37Ter
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Pie J, Casals N, Casale CH, Buesa C, Mascaro C, Barcelo A, Rolland MO, Zabot T, Haro D, Eyskens F, Divry P, Hegardt FG.A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Biochem J. 1997 Apr 15;323 ( Pt 2):329-35.

---