- accession:NM_001278074
- 基因别名:COL5A1
- 基因描述:Homo sapiens collagen, type V, alpha 1 (COL5A1), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:5517
- 翻译后氨基酸长度:1838
- TranscriptVariant:This variant (2) contains an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 2 which is of the same length but contains an alternate segment, compared to isoform 1. This variant is based on experimental data in PMID 22149965 and is supported by partial transcripts and RNA-seq data.
- 基因简介:This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
- 规格:10ul 质粒
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