Recombinant Human ARSE protein, GST-tagged

• Cat.No.: ARSE-863H
• Product Overview: Human ARSE full-length ORF (BAG35917.1, 1 a.a. - 589 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: 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]
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 92.1 kDa
• AA Sequence: MLHLHHSCLCFRSWLPAMLAVLLSL APSASSDISASRPNILLLMADDLGI GDIGCYGNNTMRTPNIDRLAEDGVK LTQHISAASLCTPSRAAFLTGRYPV RSGMVSSIGYRVLQWTGASGGPPTN ETTFAKILKEKGYATGLIGKWHLGL NCESASDHCHHPLHHGFDHFYGMPF SLMGDCARWELSEKRVNLEQKLNFL FQVLALVALTLVAGKLTHLIPVSWM PVIWSALSAVLLLASSYFVGALIVH ADCFLMRNHTITEQPMCFQRTTPLI LQEVASFLKRNKHGPFLLFVSFLHV HIPLITMENFLGKSLHGLYGDNVEE MDWMVGRILDTLDVEGLSNSTLIYF TSDHGGSLENQLGNTQYGGWNGIYK GGKGMGGWEGGIRVPGIFRWPGVLP AGRVIGEPTSLMDVFPTVVRLADSE VPQDRVIDGQDLLPLLLGTAQHSDH EFLMHYCERFLHAARWHQRDRGTMW KVHFVTPVFQPEGAGACYGRKVCPC FGEKVVHHDPPLLFDLSRDPSETHI LTPASEPVFYQVMERVQQAVWEHQR TLSPVPLQLDRLGNIWRPWLQPCCG PFPLCWCLREDDPQ
• Applications: Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: ARSE arylsulfatase E (chondrodysplasia punctata 1) [ Homo sapiens ]
• Official Symbol: ARSE
• Synonyms: ARSE; arylsulfatase E (chondrodysplasia punctata 1); CDPX, CDPX1; arylsulfatase E; chondrodysplasia punctata 1; ASE; CDPX; CDPX1; CDPXR; MGC163310
• Gene ID: 415
• mRNA Refseq: NM_000047
• Protein Refseq: NP_000038
• MIM: 300180
• UniProt ID: P51690

Reviews

03/21/2018

The ARSE protein is highly recommended for its exceptional performance in ELISA assays.

01/17/2018

The bands of proteins in Western Blotting experiments were very clear.

12/02/2016

The ARSE protein's excellent performance in ELISA ensures accurate and reproducible results, enhancing the reliability of experimental data.

Q&As

Is there any treatment available for X-linked chondrodysplasia punctata (CDPX1)?

Currently, there is no cure for X-linked chondrodysplasia punctata (CDPX1). Treatment focuses on managing the symptoms and providing supportive care. Physical therapy, medications, and surgical interventions may be recommended based on individual needs and associated complications.

What happens if there is a mutation in the ARSE gene?

Mutations in the ARSE gene can lead to a deficiency or reduced activity of the ARSE enzyme. This can result in a rare genetic disorder known as X-linked chondrodysplasia punctata (CDPX1), which primarily affects skeletal development and can manifest with characteristic bone and cartilage abnormalities.

How is X-linked chondrodysplasia punctata (CDPX1) inherited?

X-linked chondrodysplasia punctata (CDPX1) is inherited in an X-linked recessive manner. This means that the condition primarily affects males, who have one X chromosome, while females can be carriers of the disease unless both their X chromosomes are affected.

Can variations in the ARSE protein affect its catalytic efficiency?

Yes, variations or mutations in the ARSE protein can impact its catalytic efficiency. Certain mutations may reduce or abolish the enzymatic activity of ARSE, resulting in a deficiency of the enzyme and impaired breakdown of sulfated GAGs.

Can genetic counseling be beneficial for families with X-linked chondrodysplasia punctata (CDPX1) or ARSE gene mutations?

Yes, genetic counseling can be highly beneficial for families with X-linked chondrodysplasia punctata (CDPX1) or ARSE gene mutations. Genetic counselors can provide information about the condition, inheritance patterns, prenatal testing options, and available support resources. They can also help families understand the risk of passing on the mutation and make informed decisions regarding family planning.

Are there any known diseases associated with ARSE mutations?

Yes, X-linked chondrodysplasia punctata (CDPX1) is the main disorder associated with mutations in the ARSE gene. It is characterized by skeletal abnormalities, developmental delays, characteristic facial features, and other symptoms that can vary in severity.

How is the activity of the ARSE protein regulated?

The activity of the ARSE protein can be regulated through various mechanisms. One such mechanism is the presence of specific cofactors or activators that can enhance ARSE activity. Additionally, the expression of the ARSE gene itself can be controlled by genetic and epigenetic factors.