Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      AAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRYLNIFGES QPNPKTVELLSGVVDQTKDGLISFQEFVA
    • Amino acids
      2 to 80
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab160856 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
    • AI785475
    • ARALAR2
    • Calcium binding mitochondrial carrier protein Aralar2
    • Calcium-binding mitochondrial carrier protein Aralar2
    • Citrin
    • CMC2_HUMAN
    • CTLN2
    • Ctrn
    • Mitochondrial aspartate glutamate carrier 2
    • RGD1565889
    • Slc25a13
    • Solute carrier family 25 (citrin) member 13
    • Solute carrier family 25 member 13
    • Solute carrier family 25 member 13 (citrin)
    see all
  • Function
    Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.
  • Tissue specificity
    High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.
  • Involvement in disease
    Defects in SLC25A13 are the cause of citrullinemia type 2 (CTLN2) [MIM:603471]. Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years.
    Defects in SLC25A13 are the cause of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814]. NICCD is a form of citrullinemia type 2 with neonatal onset. NICCD is characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. NICCD is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms.
  • Sequence similarities
    Belongs to the mitochondrial carrier family.
    Contains 4 EF-hand domains.
    Contains 3 Solcar repeats.
  • Cellular localization
    Mitochondrion inner membrane.
  • Information by UniProt

Images

  • ab160856 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab160856 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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