人 LEPRE1 (NM_022356) cDNA克隆

Accession: NM_022356
基因名称: LEPRE1
基因别名: OI8; P3H1; GROS1
基因描述: Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 2211 (查看编码区序列)
翻译后氨基酸长度: 736 (查看氨基酸序列)
Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 3.
产品编号 产品名称 载体 规格 价格
G157782 人 LEPRE1 (NM_022356) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]