人 HLCS (NM_000411) cDNA克隆

Accession: NM_000411
基因名称: HLCS
基因别名: HCS
基因描述: Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 1, mRNA.
种属: Human
CDS区长度: 2181 (查看编码区序列)
翻译后氨基酸长度: 726 (查看氨基酸序列)
Transcript Variant: This variant (1) is the shortest transcript. Variants 1, 2 and 3 encode the same protein.
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G116284 人 HLCS (NM_000411) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]