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- accession：NM_001146289
- 基因别名：LEPRE1
- 基因描述：Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：2094
- 翻译后氨基酸长度：697
- TranscriptVariant：This variant (2) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 3, and isoform 2 is a likely cause of a recessive form of osteogenesis imperfecta (OI).
- 基因简介：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]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
