ATP7AB

ATP7AB is a gene believed to encode a copper-transporting ATPase of the P-type ATPase family. It is related to the ATP7A and ATP7B proteins that regulate intracellular copper homeostasis, though ATP7AB is not commonly listed as a canonical human gene symbol in major reference databases. In some resources it appears as an alternative transcript or a predicted paralog of the ATP7 family, and its precise genomic structure and expression pattern may vary by species.

Proteins of the ATP7 subfamily typically span the membrane several times and contain cytosolic actuator (A), phosphorylation (P), and nucleotide-binding (N) domains essential for ATP-driven transport. They possess copper-binding motifs and are believed to cycle between the trans-Golgi network and other cellular membranes to balance copper delivery to cuproenzymes and to export excess copper.

Localization and regulation: Under copper sufficiency, these transporters reside in the trans-Golgi network; excess copper triggers trafficking to the plasma membrane or vesicular compartments to facilitate copper efflux. Expression levels can be tissue- and development-specific in different species.

Clinical relevance: For ATP7A and ATP7B, pathogenic mutations cause Menkes disease and Wilson disease, respectively. There is limited published evidence linking ATP7AB to human disease; if present, disease associations would require further validation.

Research and nomenclature: ATP7AB is more often discussed in comparative genomics or as an alternative annotation. Researchers use it to study copper homeostasis evolution and the functional conservation of copper-transporting ATPases across vertebrates and invertebrates.

See also: ATP7A, ATP7B.