ARSE arylsulfatase E (chondrodysplasia punctata 1) [Homo sapiens (human)]
| Gene Symbol | ARSE |
| Entrez Gene ID | 415 |
| Full Name | arylsulfatase E (chondrodysplasia punctata 1) |
| Synonyms | CDPX, CDPX1, CDPXR, MGC163310 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
X Xp22.3 |
| Summary | 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. [provided by RefSeq]. |
| Disorder | MIM: 300180 Chondrodysplasia punctata, X-linked recessive, 302950 (3) |
| mRNA | NM_000047, 157266308 |
| Protein | NP_000038, 157266309 |
| Product | arylsulfatase E precursor |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | ARSE | NP_000038.2 |
| Canis lupus familiaris (dog) | ARSE | XP_548839.2 |
| Bos taurus (cattle) | ARSE | NP_001091457.1 |
| Rattus norvegicus (Norway rat) | Arse | XP_227066.3 |
| ID | Name | Evidence |
| GO:0001501 | skeletal system development | TAS |
Component
| ID | Name | Evidence |
| GO:0005794 | Golgi apparatus | IEA |
| GO:0005795 | Golgi stack | IEA |
Function
| ID | Name | Evidence |
| GO:0004065 | arylsulfatase activity | TAS |
| GO:0016787 | hydrolase activity | IEA |
| GO:0046872 | metal ion binding | IEA |
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