人 HMGCL (NM_001166059) cDNA克隆

Accession: NM_001166059
基因名称: HMGCL
基因别名: HL
基因描述: Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), transcript variant 2, mRNA.
种属: Human
CDS区长度: 765 (查看编码区序列)
翻译后氨基酸长度: 254 (查看氨基酸序列)
Transcript Variant: This variant is missing two consecutive in-frame coding exons compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
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G109766 人 HMGCL (NM_001166059) cDNA克隆 pDONR223 2ug质粒 点击询价

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]