ATP9A

Chr 20AR

ATPase phospholipid transporting 9A

Also known as: ATPIIA, NEDGBA

NCBI Gene: 10079 ENSG00000054793 UniProt: O75110 OMIM: 609126

ATP9A regulates membrane trafficking between endosomes, the plasma membrane, and trans-Golgi network, and is required for maintaining neurite morphology and synaptic transmission. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with poor growth and behavioral abnormalities. This gene is highly intolerant to loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables protease binding activity. Involved in negative regulation of exosomal secretion; regulation of endocytic recycling; and regulation of retrograde transport, endosome to Golgi. Located in several cellular components, including endosome; perinuclear region of cytoplasm; and trans-Golgi network membrane. Implicated in neurodevelopmental disorder with poor growth and behavioral abnormalities. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with poor growth and behavioral abnormalitiesMIM #620242

Clinical highlights

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

Multiple*

Mechanism· predicted