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HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase

Also known as: HL

Summary

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]

Associated conditions

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DescriptionTests
Deficiency of hydroxymethylglutaryl-CoA lyase
MedGen: C0268601OMIM: 246450GeneReviews: Not available
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Genomic context

Location:
1p36.11
Sequence:
Chromosome: 1; NC_000001.11 (23801877..23825459, complement)
Total number of exons:
9

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