Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      WGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVT EDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAAL
    • Amino acids
      259 to 357
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab162019 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • 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: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • Bernardinelli Seip congenital lipodystrophy 2
    • Bernardinelli Seip congenital lipodystrophy type 2 protein
    • Bernardinelli-Seip congenital lipodystrophy type 2 protein
    • BSCL 2
    • BSCL2
    • BSCL2_HUMAN
    • GNG3LG
    • HMN 5
    • HMN5
    • MGC4694
    • Seipin
    • Spastic paraplegia 17
    • Spastic paraplegia 17 (autosomal dominant)
    • Spastic paraplegia 17 (Silver syndrome)
    • Spastic paraplegia with amyotrophy of hands and feet
    • Spastic paraplegia with amyotrophy of hands and feet (Silver syndrome)
    • SPG 17
    • SPG17
    see all
  • Tissue specificity
    Highest expression in brain and testis.
  • Involvement in disease
    Defects in BSCL2 are the cause of congenital generalized lipodystrophy type 2 (CGL2) [MIM:269700]. Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by a near absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
    Defects in BSCL2 are the cause of spastic paraplegia type 17 (SPG17) [MIM:270685]; also known as Silver spastic paraplegia syndrome. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs, and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.
    Defects in BSCL2 are a cause of distal hereditary motor neuropathy type 5 (HMN5) [MIM:600794]; also known aS distal hereditary motor neuropathy type V (DSMAV). HMN5 is an autosomal dominant disorder characterized by degeneration of motor nerve fibers, predominantly in limb distal regions.
  • Sequence similarities
    Belongs to the seipin family.
  • Cellular localization
    Endoplasmic reticulum membrane.
  • Information by UniProt

Images

  • ab162019 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab162019 has not yet been referenced specifically in any publications.

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

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