人 LEPREL1 (NM_001134418) cDNA克隆

Accession: NM_001134418
基因名称: LEPREL1
基因别名: MCVD; P3H2; MLAT4
基因描述: Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1584 (查看编码区序列)
翻译后氨基酸长度: 527 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
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G106958 人 LEPREL1 (NM_001134418) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]