Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionP15289
    • SpeciesHuman
    • SequenceMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLD QLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGL PLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYS HDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEAR YMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDS LMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRC GKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPN VTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRSGKYKAHFFT QGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATP EVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACC HCPDPHA
    • Molecular weight82 kDa including tags
    • Amino acids1 to 507

Specifications

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.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • FormLiquid
  • 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.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General info

  • Alternative names
    • arsA
    • ARSA_HUMAN
    • arylsulfatase A
    • Arylsulfatase A component C
    • As 2
    • AS A
    • As2
    • ASA
    • AW212749
    • C230037L18Rik
    • Cerebroside-sulfatase
    • metachromatic leucodystrophy
    • MGC125207
    • MLD
    • OTTHUMP00000196546
    • OTTHUMP00000196548
    • TISP73
    see all
  • 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.
  • Post-translational
    modifications
    The 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.
  • Information by UniProt

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.

Product Wall

There are currently no Abreviews or Questions for ab116931.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"