This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase. Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum. Associates with the V0 complex of the vacuolar ATPase (V-ATPase). MEAX is a childhood-onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. It is inherited in recessive fashion, affecting boys and sparing carrier females. Onset is in childhood, and patients exhibit weakness of the proximal muscles of the lower extremities, progressing slowly to involve other skeletal muscle groups over time.
Immunogen Information
Immunogen
Synthetic peptide of human VMA21
Swissprot
Q3ZAQ7
Synonyms
VMA21Vacuolar ATPase Assembly FactorMyopathy With Excessive Autophagy ProteinMEAXXMEAVacuolar ATPase Assembly Integral Membrane Protein VMA21VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)Myopathy With Excessive AutophagyVMA21 Vacuolar H+-ATPase
Gene Accession
NP001017980
Applications
Reactivity
Human, Mouse
Tested Applications
IHC,IF,ELISA
Conjugation
Unconjugated
Dilution
IHC 1:150-1:500, IF 1: 50-1:200, ELISA 1:5000-1:240000