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. [provided by RefSeq, Oct 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HMGCL-20-RE | 20 (40 μL) | 200 μL |  |
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| HMGCL-20-OR | 20 (40 μL) | 200 μL |  |
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| HMGCL-20-GO | 20 (40 μL) | 200 μL |  |
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| HMGCL-20-GR | 20 (40 μL) | 200 μL |  |
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| HMGCL-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Oct 2009]
Gene Symbol : HMGCL
Gene Name : 3-hydroxymethyl-3-methylglutaryl-CoA lyase
Chromosome : CHR 1: 238,254,58-238,018,76
Locus : 1p36.11
Alt. Genes : RAD50
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