- accession:NM_000047
- 基因别名:ARSE
- 基因描述:Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:1770
- 翻译后氨基酸长度:589
- TranscriptVariant:This variant (2) lacks an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
- 基因简介:Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]
- 规格:10ul 质粒
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