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ARSE arylsulfatase E (chondrodysplasia punctata 1) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000047 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. GenEZ ORF Cloning On-demand $849.00 20

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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, Jul 2008].
Disorder

MIM: 300180

Chondrodysplasia punctata, X-linked recessive, 302950 (3)

mRNA Protein Product Sequence Price Select
NM_000047, 157266308 NP_000038, 157266309 arylsulfatase E precursor ORF Sequence $700.00
WikiPathways
WP697Estrogen metabolism
Reactome
REACT_17015Metabolism of proteins
REACT_120870Phospholipid metabolism
REACT_116105Glycosphingolipid metabolism
REACT_22161Post-translational protein modification
REACT_111217Metabolism
REACT_19323Sphingolipid metabolism
REACT_121036The activation of arylsulfatases
REACT_22258Metabolism of lipids and lipoproteins
REACT_1069PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
Homo sapiens (human)ARSENP_000038.2
Macaca mulatta (Rhesus monkey)ARSEXP_001116129.1
Canis lupus familiaris (dog)ARSENP_001041587.1
Bos taurus (cattle)ARSENP_001091457.1
Rattus norvegicus (Norway rat)ArseNP_001041350.1
GeneCards ARSE
UniProt P51690
MIM 300180
Ensembl ENSG00000157399
HGNC 719
HPRD 02171

General protein information

Preferred Names
arylsulfatase E
Names
arylsulfatase E
chondrodysplasia punctata 1
NP_000038.2

Interactant



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