Vacuolar ATPase assembly integral membrane protein VMA21 (Vma21), Recombinant P

For Research Use Only. Not for use in diagnostic procedures.

Cell Free Expression

Liquid containing glycerol

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of Vma21 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Transmembrane Protein

This is a recombinant transmembrane protein expressed in a cell-free expression system.

9,333 Da

VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)

vacuolar ATPase assembly integral membrane protein Vma21

Vacuolar ATPase assembly integral membrane protein Vma21

VMA21_MOUSE

VMA21: Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum. Defects in VMA21 are the cause of X-linked myopathy with excessive autophagy (MEAX). 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. Other organs including the heart and brain are clinically unaffected. Phenotype is due to an increase of lysosomal pH from 4.7 to 5.2, which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids, which up-regulates the mTOR pathway and mTOR-dependent macroautophagy, resulting in proliferation of large and ineffective autolysosomes that engulf sections of cytoplasm, merge together, and vacuolate the cell. Belongs to the VMA21 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Cellular Component: cytoplasmic vesicle; endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; membrane

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