人 ARSE (NM_000047) cDNA克隆

Accession: NM_000047
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 2, mRNA.
种属: Human
CDS区长度: 1770 (查看编码区序列)
翻译后氨基酸长度: 589 (查看氨基酸序列)
Transcript Variant: 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.
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G123101 人 ARSE (NM_000047) 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]