Human ARSA Recombinant Protein (RPPB1410)
- SKU:
- RPPB1410
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P15289
- Research Area:
- Enzymes
Description
| Product Name: | Human ARSA Recombinant Protein |
| Product Code: | RPPB1410 |
| Size: | 20µg |
| Species: | Human |
| Target: | ARSA |
| Synonyms: | Arylsulfatase A, ASA, EC 3.1.6.8, Cerebroside-sulfatase, ARSA, MLD. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered clear solution. |
| Formulation: | The ARSA solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.4M UREA and 10% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSRPPNIVL IFADDLGYGD LGCYGHPSST TPNLDQLAAG GLRFTDFYVP VSLCTPSRAA LLTGRLPVRM GMYPGVLVPS SRGGLPLEEV TVAEVLAARG YLTGMAGKWH LGVGPEGAFL PPHQGFHRFL GIPYSHDQGP CQNLTCFPPA TPCDGGCDQG LVPIPLLANL SVEAQPPWLP GLEARYMAFA HDLMADAQRQ DRPFFLYYAS HHTHYPQFSG QSFAERSGRG PFGDSLMELD AAVGTLMTAI GDLGLLEETL VIFTADNGPE TMRMSRGGCS GLLRCGKGTT YEGGVREPAL AFWPGHIAPG VTHELASSLD LLPTLAALAG APLPNVTLDG FDLSPLLLGT GKSPRQSLFF YPSYPDEVRG VFAVRTGKYK AHFFTQGSAH SDTTADPACH ASSSLTAHEP PLLYDLSKDP GENYNLLGGV AGATPEVLQA LKQLQLLKAQ LDAAVTFGPS QVARGEDPAL QICCHPGCTP RPACCHCPDP HA |
Arylsulfatase A (ARSA) hydrolyzes cerebrosidesulfate to cerebroside and sulfate. ARSA is inhibited by phosphate. The phosphate develops a covalent bond with the active site 3-oxoalanine. ARSA gene defects cause metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in various neurological symptoms and ultimately death.
ARSA Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 512 amino acids (21-509) and having a molecular mass of 54.3kDa.ARSA is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | ARSA: Hydrolyzes cerebroside sulfate. Defects in ARSA are a cause of leukodystrophy metachromatic (MLD). MLD is a disease due to a lysosomal storage defect. It is characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late- infantile, juvenile and adult. Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD). A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys- 69 that is not converted to 3-oxoalanine. Belongs to the sulfatase family. |
| UniProt Protein Details: | Protein type:Hydrolase; Lipid Metabolism - sphingolipid; EC 3.1.6.8 Chromosomal Location of Human Ortholog: 22q13.33 Cellular Component: extracellular space; lysosomal lumen; extrinsic to external side of plasma membrane; lysosome; endoplasmic reticulum lumen; acrosome; integral to membrane; endosome Molecular Function:arylsulfatase activity; sulfuric ester hydrolase activity; calcium ion binding; cerebroside-sulfatase activity Biological Process: sphingolipid metabolic process; response to ethanol; central nervous system development; cellular protein metabolic process; binding of sperm to zona pellucida; response to estrogen stimulus; response to methylmercury; autophagy; glycosphingolipid metabolic process; post-translational protein modification; response to nutrient; response to pH Disease: Metachromatic Leukodystrophy |
| NCBI Summary: | 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. [provided by RefSeq, Dec 2010] |
| UniProt Code: | P15289 |
| NCBI GenInfo Identifier: | 114221 |
| NCBI Gene ID: | 410 |
| NCBI Accession: | P15289.3 |
| UniProt Secondary Accession: | P15289,Q6ICI5, Q96CJ0, B2RCA6, B7XD04, F8WCC8, |
| UniProt Related Accession: | P15289 |
| Molecular Weight: | 507 |
| NCBI Full Name: | Arylsulfatase A |
| NCBI Synonym Full Names: | arylsulfatase A |
| NCBI Official Symbol: | ARSA�� |
| NCBI Official Synonym Symbols: | MLD�� |
| NCBI Protein Information: | arylsulfatase A; ASA; cerebroside-sulfatase |
| UniProt Protein Name: | Arylsulfatase A |
| UniProt Synonym Protein Names: | Cerebroside-sulfataseCleaved into the following 2 chains:Arylsulfatase A component B; Arylsulfatase A component C |
| Protein Family: | Arylsulfatase |
| UniProt Gene Name: | ARSA�� |
| UniProt Entry Name: | ARSA_HUMAN |
