人 COL11A1 (NM_001190709) cDNA克隆

基本信息

Accession: NM_001190709
基因名称: COL11A1
基因别名: STL2; COLL6; CO11A1
基因描述: Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant E, mRNA.
种属: Human
CDS区长度: 5304 (查看编码区序列)
翻译后氨基酸长度: 1767 (查看氨基酸序列)
Transcript Variant: This variant (E, previously referred to as C) does not utilize either alternate exon 6A or 6B. The encoded isoform (E, previously referred to as C) is shorter than isoform A. There are no publicly available transcripts representing this variant; it is supported by mRNA annotation on DNA accession AF101112.1, protein AAF04724.1, submitted by the authors of PMID:10486316.

订购信息

产品编号 产品名称 载体 规格 价格
G124652 人 COL11A1 (NM_001190709) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 COL11A1 (NM_001854) cDNA克隆 transcript variant A
人 COL11A1 (NM_080629) cDNA克隆 transcript variant B
人 COL11A1 (NM_080630) cDNA克隆 transcript variant C
人 COL11A1 (NM_001168249) cDNA克隆 transcript variant D
人 COL11A1 (NM_001190709) cDNA克隆 transcript variant E

基因简介

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

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