Recombinant Human ATP6V0A2 protein (ab153237)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      GYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHC HVYPYPNTAEERREIQEGLNTRIQDLYTVLHKTEDYLRQVLCKAAESVYS RVIQVKK
    • Amino acids
      198 to 304
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab153237 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
    • a2
    • A2V ATPase
    • ARCL
    • ATP6a2
    • ATP6N1D
    • ATP6V0A2
    • ATPase, H+ transporting, lysosomal V0 subunit a isoform 2
    • ATPase, H+ transporting, lysosomal V0 subunit a2
    • Infantile malignant osteopetrosis
    • J6B7
    • Lysosomal H(+) transporting ATPase V0 subunit a2
    • Lysosomal H(+)-transporting ATPase V0 subunit a2
    • regeneration and tolerance factor
    • Stv1
    • TJ6
    • TJ6M
    • TJ6s
    • V ATPase 116 kDa isoform a2
    • V type proton ATPase 116 kDa subunit a
    • V type proton ATPase 116 kDa subunit a isoform 2
    • V-ATPase 116 kDa isoform a2
    • V-type proton ATPase 116 kDa subunit a isoform 2
    • Vacuolar proton translocating ATPase 116 kDa subunit a
    • Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2
    • Vph1
    • VPP2_HUMAN
    • WSS
    see all
  • Function
    Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH.
  • Involvement in disease
    Defects in ATP6V0A2 are the cause of cutis laxa autosomal recessive type 2A (ARCL2A) [MIM:219200]. An autosomal recessive disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.
    Defects in ATP6V0A2 are a cause of wrinkly skin syndrome (WSS) [MIM:278250]. WSS is rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.
  • Sequence similarities
    Belongs to the V-ATPase 116 kDa subunit family.
  • Post-translational
    modifications
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localization
    Cell membrane. Endosome membrane. In kidney proximal tubules, also detected in subapical vesicles.
  • Information by UniProt

Images

  • ab153237 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab153237 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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