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Sequence of this protein is as follows: MAAMRKALPR RLVGLASLRA VSTSSMGTLP KRVKIVEVGP RDGLQNEKNI VSTPVKIKLI DMLSEAGLSV IETTSFVSPK WVPQMGDHTE VLKGIQKFPG INYPVLTPNL KGFEAAVAAG AKEVVIFGAA SELFTKKNIN CSIEESFQRF DAILKAAQSA NISVRGYVSC ALGCPYEGKI SPAKVAEVTK KFYSMGCYEI SLGDTIGVGT PGIMKDMLSA VMQEVPLAAL AVHCHDTYGQ ALANTLMALQ MGVSVVDSSV AGLGGCPYAQ GASGNLATED LVYMLEGLGI HTGVNLQKLL EAGNFICQAL NRKTSSKVAQ ATCKL
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; HL; HMG-CoA lyase; hydroxymethylglutaricaciduria; Hydroxymethylglutaryl-CoA lyase, mitochondrial; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
基因别名: HL; HMGCL
UniProt ID: (Human) P35914
Entrez Gene ID: (Human) 3155