Overview

  • Product name
  • Description
    Rabbit polyclonal to ATP6V0A2
  • Tested applications
    Suitable for: WBmore details
  • Species reactivity
    Reacts with: Human
    Predicted to work with: Mouse, Rat, Cow
  • Immunogen

    Recombinant fragment, corresponding to a region within amino acids 81 and 309 of Human ATP6V0A2 (UniProt ID: Q9Y487).

  • Positive control
    • A431, Raji and Jurkat whole cell lysate

Properties

Applications

Our Abpromise guarantee covers the use of ab126227 in the following tested applications.

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

Application Abreviews Notes
WB 1/500 - 1/3000. Predicted molecular weight: 98 kDa.

Target

  • 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
  • Database links
  • Alternative names
    • a2 antibody
    • A2V ATPase antibody
    • ARCL antibody
    • ATP6a2 antibody
    • ATP6N1D antibody
    • ATP6V0A2 antibody
    • ATPase, H+ transporting, lysosomal V0 subunit a isoform 2 antibody
    • ATPase, H+ transporting, lysosomal V0 subunit a2 antibody
    • Infantile malignant osteopetrosis antibody
    • J6B7 antibody
    • Lysosomal H(+) transporting ATPase V0 subunit a2 antibody
    • Lysosomal H(+)-transporting ATPase V0 subunit a2 antibody
    • regeneration and tolerance factor antibody
    • Stv1 antibody
    • TJ6 antibody
    • TJ6M antibody
    • TJ6s antibody
    • V ATPase 116 kDa isoform a2 antibody
    • V type proton ATPase 116 kDa subunit a antibody
    • V type proton ATPase 116 kDa subunit a isoform 2 antibody
    • V-ATPase 116 kDa isoform a2 antibody
    • V-type proton ATPase 116 kDa subunit a isoform 2 antibody
    • Vacuolar proton translocating ATPase 116 kDa subunit a antibody
    • Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2 antibody
    • Vph1 antibody
    • VPP2_HUMAN antibody
    • WSS antibody
    see all

Images

  • Anti-ATP6V0A2 antibody (ab126227) at 1/1000 dilution + Jurkat whole cell lysate at 30 µg

    Predicted band size : 98 kDa

References

ab126227 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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