人 ARSE (NM_001282631) cDNA克隆

Accession: NM_001282631
基因名称: ARSE
基因别名: ASE; CDPX; CDPX1; CDPXR
基因描述: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1635 (查看编码区序列)
翻译后氨基酸长度: 544 (查看氨基酸序列)
Transcript Variant: This variant (3) contains an alternate 5' terminal exon, lacks two alternate exons in the coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
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G123103 人 ARSE (NM_001282631) cDNA克隆 pDONR223 2ug质粒 点击询价

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]