ATP6AP2 gene

Last updated on: 06.05.2021

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ATP6AP2 an acronym for "ATPase H+ Transporting Accessory Protein 2" encodes a transmembrane protein that is an essential accessory component of vacuolar ATPase required for lysosomal degradative functions and autophagy. The encoded Atp6ap2 protein is a multifunctional protein that functions as a cellular renin and prorenin receptor. ATP6AP2 may control several signaling pathways important for proper brain development, synapse morphology, and synaptic transmission.

Diseases associated with ATP6AP2 include:

  • Parkinsonism with spasticity, X-linked and
  • Mental retardation, X-linked, syndromic, Hedera type.
  • Congenital disorder of glycosylation type 2R: In 3 males from 2 unrelated families with X-linked congenital disorder of glycosylation type 2R, Rujano et al (2017) identified hemizygous missense variants in the ATP6AP2 gene.

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  1. Dubos A et al. (2015) Conditional deletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration. Hum Molec Genet 24: 6736-6755
  2. Gupta H V et al. (2015) A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism. Parkinsonism Relat. Disord 21: 1473-1475
  3. Hedera P et al (2002) Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. Ann Neurol 51: 45-50.
  4. Rujan, M A et al (2017) Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. J Exp Med 214: 3707-3729

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Last updated on: 06.05.2021