Human ARSA full length protein (ab116931)
- Product nameHuman ARSA full length proteinSee all ARSA proteins and peptides ...
- SourceWheat germ
- Amino Acid Sequence
- SequenceMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYG HPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGR LPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGM AGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLT CFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEAR YMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAE RSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTA DNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPG HIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSP LLLGTGKSPRQSLFFYPSYPDEVRGVFAVRSGKYKAHFFT QGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYN LLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARG EDPALQICCHPGCTPRPACCHCPDPHA
- Molecular weight82 kDa including tags
- Amino acids1 to 507
Our Abpromise guarantee covers the use of ab116931 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
- Additional NotesProtein concentration is above or equal to 0.05 mg/ml.
Best use within three months from the date of receipt of this protein.
- Concentration information loading...
Preparation and Storage
- Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
Constituents: 0.3% Glutathione, 0.79% Tris HCl
- arylsulfatase A
- Arylsulfatase A component C
- As 2
- AS A
- metachromatic leucodystrophy
- FunctionHydrolyzes cerebroside sulfate.
- Involvement in diseaseDefects in ARSA are a cause of leukodystrophy metachromatic (MLD) [MIM:250100]. 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) [MIM:272200]. MSD is a disorder characterized by decreased activity of all known sulfatases. MSD is due to defects in SUMF1 resulting in the lack of post-translational modification of a highly conserved cysteine into 3-oxoalanine. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.
- Sequence similaritiesBelongs to the sulfatase family.
modificationsThe conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).
- Cellular localizationLysosome.
Human ARSA full length protein images
12.5% SDS-PAGE stained with Coomassie Blue showing ab116931 at approximately 81.84 kDa.
References for Human ARSA full length protein (ab116931)
ab116931 has not yet been referenced specifically in any publications.