Mouse ATPase, H+ transporting, lysosomal V0 subunit a2 ELISA Kit | ATP6V0A2 elisa kit
Mouse V-type proton ATPase 116 kDa subunit a isoform 2, ATP6V0A2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a subunit of vacuolar ATPase, a multimeric enzyme that localizes to intracellular vesicles and to the plasma membrane of specialized cells. The encoded protein is a component of the V(0) domain, which functions in proton translocation across membranes. Function of this gene is important in fetal-specific immune suppression during pregnancy. [provided by RefSeq, May 2013]
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: Energy Metabolism - oxidative phosphorylation; Transporter, ion channel; Transporter; Membrane protein, multi-pass; Membrane protein, integral; Transporter, iron
Cellular Component: focal adhesion; membrane; lysosomal membrane; cytoplasm; integral to membrane; plasma membrane; acrosome; vacuolar proton-transporting V-type ATPase complex; endosome
Molecular Function: protein binding; hydrogen ion transmembrane transporter activity; hydrogen ion transporting ATPase activity, rotational mechanism; ATPase binding
Biological Process: vacuolar acidification; ATP synthesis coupled proton transport; proton transport; transport; ATP hydrolysis coupled proton transport; ion transport
Research Articles on ATP6V0A2
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Product Notes
The Mouse ATP6V0A2 atp6v0a2 (Catalog #AAA9343340) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9343340 ELISA Kit recognizes Mouse ATP6V0A2. It is sometimes possible for the material contained within the vial of "ATPase, H+ transporting, lysosomal V0 subunit a2, ELISA Kit" 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
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