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Immunogen sequence: MAAMRKALP RRLVGLASLR AVSTSSMGTL PKRVKIVEVG PRDGLQNEKN IVSTPVKIKL IDMLSEAGLS VIETTSFVSP KWVPQMGDHT EVLKGIQKFP GINYPVLTPN LKGFEAAVAA GAKEVVIFGA ASELFTKKNI NCSIEESFQR FDAILKAAQS ANISVRGYVS CALGCPYEGK ISPAKVAEVT KKFYSMGCYE ISLGDTIGVG TPGIMKDMLS AVMQEVPLAA LAVHCHDTYG QALANTLMAL QMGVSVVDSS VAGLGGCPYA QGASGNLATE DLVYMLEGLG IHTGVNLQKL LEAGNFICQA LNRKTSSKVA QATCKL (1-325 aa encoded by B C010570)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxy-3-methylglutaryl-Coenzyme A lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; HL; HMG-CoA lyase; hydroxymethylglutaricaciduria; Hydroxymethylglutaryl-CoA lyase, mitochondrial; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
Gene Aliases: AW476067; HL; HMGCL
UniProt ID: (Human) P35914, (Mouse) P38060, (Rat) P97519
Entrez Gene ID: (Human) 3155, (Mouse) 15356, (Rat) 79238
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