Immunofluorescence (IF)
(Immunofluorescent analysis of A431 cells using MBS7003605 at a dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L))
Rabbit anti-Human ATP6V0A2 Polyclonal Antibody | anti-ATP6V0A2 antibody
ATP6V0A2 Antibody
Immunofluorescence (IF)
(Immunofluorescent analysis of A431 cells using MBS7003605 at a dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L))
Immunofluorescence (IF)
(Immunofluorescent analysis of A431 cells using MBS7003605 at a dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L))
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]
Uniprot Description
ATP6V0A2: 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. Defects in ATP6V0A2 are the cause of cutis laxa autosomal recessive type 2A (ARCL2A). 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). 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. Belongs to the V-ATPase 116 kDa subunit family.
Protein type: Transporter, iron; Transporter, ion channel; Membrane protein, integral; Energy Metabolism - oxidative phosphorylation; Transporter; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 12q24.31
Cellular Component: acrosome; cytoplasm; endosome membrane; focal adhesion; integral to membrane; lysosomal membrane; phagocytic vesicle membrane; plasma membrane; vacuolar proton-transporting V-type ATPase complex
Molecular Function: ATPase binding; hydrogen ion transporting ATPase activity, rotational mechanism; protein binding
Biological Process: ATP hydrolysis coupled proton transport; ATP synthesis coupled proton transport; cell redox homeostasis; cellular iron ion homeostasis; immune response; insulin receptor signaling pathway; transferrin transport; transmembrane transport; vacuolar acidification
Disease: Cutis Laxa, Autosomal Recessive, Type Iia; Wrinkly Skin Syndrome
Research Articles on ATP6V0A2
Similar Products
Product Notes
The ATP6V0A2 atp6v0a2 (Catalog #AAA7003605) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The ATP6V0A2 Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's ATP6V0A2 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Immunofluorescence (IF). Researchers should empirically determine the suitability of the ATP6V0A2 atp6v0a2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "ATP6V0A2, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
