Associated disorders

The ATP6AP2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked recessive mental retardation with epilepsy.

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Invitae tests that include this gene:

Invitae Epilepsy Panel up to 103 genes

H(+)-ATPases actively move protons (H+) across a membrane, creating electrical or pH gradients. The ATP6AP2 gene encodes an accessory subunit of the vacuolar H(+)-ATPase that is important for endocytic trafficking and protein turnover. ATP6AP2 also has ATPase-independent roles in binding renin and prorenin to regulate blood pressure and electrolyte balance, and in canonical WNT signaling and planar cell polarity, processes which are important in development.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ATP6AP2 NM_005765.2