VMA21 Gene Summary [Human]

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

Details

Type
Processed Transcript
Official Symbol
VMA21
Official Name
vacuolar ATPase assembly factor VMA21 [Source:HGNC Symbol;Acc:HGNC:22082]
Ensembl ID
ENSG00000160131
Bio databases IDs NCBI: 203547 Ensembl: ENSG00000160131
Aliases vacuolar ATPase assembly factor VMA21
Synonyms 2610030H06Rik, LOC100912478, MEAX, RGD1566155, UPF0569, vacuolar ATPase assembly factor VMA21, VMA21 vacuolar H+-ATPase homolog (S. cerevisiae), XMEA
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human VMA21 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding
  • VMA21-like domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • X-linked myopathy with excessive autophagia
  • hereditary disorder
regulated by
regulates
  • ATPase

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • sarcoplasmic reticulum
  • lysosome

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human VMA21 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • vacuolar proton-transporting V-type ATPase complex assembly
  • regulation of ATPase activity

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • ER to Golgi transport vesicle membrane
  • lysosome
  • endoplasmic reticulum-Golgi intermediate compartment membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.