VMA21 gene

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

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]

From UniProt:

Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.

From NCBI Gene:

  • Myopathy, X-linked, with excessive autophagy

From UniProt:

Myopathy, X-linked, with excessive autophagy (MEAX): A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells. [MIM:310440]

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28

Molecular Location: base pairs 151,396,555 to 151,409,364 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28
  • MEAX
  • XMEA