ATP6V0A2

ATP6V0A2 is a gene that provides instructions for making a protein that is part of a large enzyme complex known as V-ATPase (vacuolar ATPase). This complex is important for the transport of ions across cell membranes, a critical task for normal cell functioning.

Function

The ATP6V0A2 protein is a component of the V0 domain. V-ATPases are ATP-dependent proton pumps composed of a peripheral ATPase domain (V1) and a membrane-integral proton-translocating domain (V0) and are involved in many processes including lysosome acidification, bone resorption, and sperm maturation.

Clinical significance

Mutations in the ATP6V0A2 gene are associated with autosomal recessive cutis laxa type II (ARCL2), a disorder characterized by cutis laxa (loose, sagging skin), distinctive facial features, joint laxity, severe developmental delay, and associated neurological abnormalities.

See also

• V-ATPase
• Cutis laxa
• ATP6V0A2-related cutis laxa

References

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External links

• NCBI Gene
• Genetics Home Reference