| Full gene name: | 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) |
|---|---|
| Entrez Gene ID: | 3158 |
| Location: | 1p13-p12 |
| Synonyms: | |
| Type: | protein-coding |
SNPs given by the user that are near or inside this gene:
| SNP | Distance (bp) | Direction |
|---|---|---|
| rs10923931 | 206404 | upstream |
The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
| OMIM ID: | `OMIM ID 600234 `_ |
|---|
Allelic Variants (Selected Examples)
.0001 MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
In a patient with HMG-CoA synthase deficiency (605911) described by Thompson et al. (1997), Bouchard et al. (2001) identified a T-to-C substitution at nucleotide 520 of the HMGCS2 gene, resulting in a phenylalanine-to-leucine substitution at codon 174 (F174L). This mutation was found in homozygosity; both parents were carriers. When expressed in bacteria, the F174L mutation resulted in a mitochondrial HMG-CoA synthase polypeptide with no detectable activity.
.0002 MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
In a patient with HMG-CoA synthase deficiency (605911) described by Morris et al. (1998), Bouchard et al. (2001) identified a C-to-T transition at nucleotide 1270 of the HMGCS2 gene, resulting in an arg-to-ter substitution at codon 424 (R424X). This patient was a genetic compound for this mutation; the second mutation was not characterized.
.0003 MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
Aledo et al. (2001) described compound heterozygosity for 2 mutations in the HMGCS2 gene in a patient with HMG-CoA synthase deficiency (605911). A heterozygous G-to-A transition at nucleotide 634 in exon 3, inherited from the father, was predicted to cause a gly212-to-arg (G212R) amino acid substitution. In exon 9 of the patient and his mother, a heterozygous G-to-A transition at nucleotide 1499 was identified and predicted to cause an arg500-to-his (R500H; 600234.0004) amino acid substitution. The affected boy presented at the age of 11 months with acute hypoglycemic coma and respiratory arrest after a 2-day history of gastroenteritis, vomiting, and poor food intake. In addition to low blood glucose, elevated transaminases and lactate dehydrogenase were found at admission. During a monitored fasting test, massive elevation of plasma free fatty acids without concomitant elevation of total plasma ketones was observed. The patient was placed on supplementary carnitine and the family was advised to avoid fasting for more than 8 hours and to administer a caloric drink at around midnight. Under this regimen, there were no subsequent hypoglycemic episodes, and the child at 4 years of age was developing normally with no residual neurologic impairment.
.0004 MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
See 600234.0003 and Aledo et al. (2001).
.0005 MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
In 2 sisters with mitochondrial HMG-CoA synthase deficiency (605911), the offspring of healthy unrelated Caucasian parents, Wolf et al. (2003) identified compound heterozygosity for 2 mutations in exon 2 of the HMGCS2 gene: a 160G-A transition resulting in a val54-to-met (V54M) substitution, and 500A-G transition resulting in a tyr167-to-cys (Y167C) substitution (600234.0006). Carrier status was confirmed in both parents.
.0006 MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
See 600234.0005 and Wolf et al. (2003). The Y167C mutation occurs in the catalytic domain of the HMGCS2 enzyme.
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