Features include always present findings: Decreased liver function, Recurrent infections, and Cutis laxa; and common findings: Hypospadias, Micrognathia, and Low-set ears. 15 total HPO annotations.

ATP6AP2 encodes ATPase H+ transporting accessory protein 2 (350 aa). Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system. Highest expression in Cells Cultured fibroblasts (171.6 TPM) and Artery Aorta (154.4 TPM).

Congenital disorder of glycosylation, type IIr is associated with mutations in the ATP6AP2 gene on chromosome X.

The ATP6AP2 protein participates in Metabolism of Angiotensinogen to Angiotensins pathway.

ATP6AP2 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Transporter categories) with score 0.0.

Genetic testing for ATP6AP2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 3 common features.