ATP11A

Chr 13

ATPase phospholipid transporting 11A

Also known as: ATPIH, ATPIS, AUNA2, DFNA84, HLD24

NCBI Gene: 23250 ENSG00000068650 UniProt: P98196

This protein is a P4-ATPase flippase that transports phospholipids from the outer to inner leaflet of cell membranes and contributes to muscle cell development. Autosomal dominant mutations cause hearing loss (deafness or auditory neuropathy) and possibly hypomyelinating leukodystrophy. The gene is highly constrained against loss-of-function variants (LOEUF 0.467), suggesting intolerance to protein disruption.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal dominant, 84

UniProtLeukodystrophy, hypomyelinating, 24

UniProtAuditory neuropathy, autosomal dominant 2

Clinical highlights

Gene-disease validity (ClinGen)

autosomal dominant nonsyndromic hearing loss · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.47

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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