Recombinant Human ARSA Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: ARSA-1274H
• Product Overview: ARSA MS Standard C13 and N15-labeled recombinant protein (NP_001078894) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 53.81 kDa
• AA Sequence: MSMGAPRSLLLALAAGLAVARPPNI VLIFADDLGYGDLGCYGHPSSTTPN LDQLAAGGLRFTDFYVPVSLCTPSR AALLTGRLPVRMGMYPGVLVPSSRG GLPLEEVTVAEVLAARGYLTGMAGK WHLGVGPEGAFLPPHQGFHRFLGIP YSHDQGPCQNLTCFPPATPCDGGCD QGLVPIPLLANLSVEAQPPWLPGLE ARYMAFAHDLMADAQRQDRPFFLYY ASHHTHYPQFSGQSFAERSGRGPFG DSLMELDAAVGTLMTAIGDLGLLEE TLVIFTADNGPETMRMSRGGCSGLL RCGKGTTYEGGVREPALAFWPGHIA PGVTHELASSLDLLPTLAALAGAPL PNVTLDGFDLSPLLLGTGKSPRQSL FFYPSYPDEVRGVFAVRTGKYKAHF FTQGSAHSDTTADPACHASSSLTAH EPPLLYDLSKDPGENYNLLGGVAGA TPEVLQALKQLQLLKAQLDAAVTFG PSQVARGEDPALQICCHPGCTPRPA CCHCPDPHATRTRPLEQKLISEEDL AANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: ARSA arylsulfatase A [ Homo sapiens (human) ]
• Official Symbol: ARSA
• Synonyms: ARSA; arylsulfatase A; metachromatic leucodystrophy; ASA; cerebroside-sulfatase; MLD
• Gene ID: 410
• mRNA Refseq: NM_001085425
• Protein Refseq: NP_001078894
• MIM: 607574
• UniProt ID: P15289

Reviews

12/20/2021

By utilizing the ARSA protein, I can approach my research with unwavering confidence in its quality, along with the unparalleled support provided by its manufacturer.

03/05/2020

I am genuinely excited to embark on this scientific journey, empowered by the superior ARSA protein and the manufacturer's unwavering commitment to ensuring my success.

10/01/2017

The ARSA protein comes highly recommended due to its exceptional performance in ELISA assays.

Q&As

Are there any known genetic variations in the ARSA gene?

Yes, several genetic variations, including point mutations, deletions, and insertions, have been identified in the ARSA gene. These variations can lead to reduced ARSA activity and are responsible for different types and severities of metachromatic leukodystrophy.

Can ARSA deficiency be treated?

At present, there is no cure for metachromatic leukodystrophy caused by ARSA deficiency. However, there are some treatments available that aim to manage the symptoms and slow disease progression, such as enzyme replacement therapy and hematopoietic stem cell transplantation. Research is ongoing to develop more effective therapeutic strategies for this condition.

What happens if ARSA is deficient?

Deficiency of ARSA activity results in the accumulation of sulfatides within cells, particularly in the central and peripheral nervous systems. This buildup leads to the destruction of myelin, impairing nerve signal transmission and causing the symptoms associated with metachromatic leukodystrophy (MLD), such as motor and cognitive deterioration.

Is ARSA protein associated with any other diseases besides metachromatic leukodystrophy?

Yes, in addition to MLD, alterations in ARSA activity have been implicated in certain types of multiple sclerosis (MS). Although the exact relationship is not fully understood, it is believed that decreased ARSA function may contribute to the pathogenesis of certain forms of MS.