Gene Function

Catalytic subunit of the Na(+)/K(+)-ATPase pump that hydrolyzes ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle against electrochemical gradients. It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane. This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function. Could also be part of an osmosensory signaling pathway that senses body-fluid sodium levels and controls salt intake behavior as well as voluntary water intake to regulate sodium homeostasis (By similarity) Source: UniProt

Relationship to CMT

CMT2 AD
1 subtype
1p13.1

First described 2018

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT2DD	Inheritanceautosomal dominant	ClassCMT2	OMIM618036	Sentinel Publication Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 2018 · 10.1016/j.ajhg.2018.01.023

Stored Identifiers

HGNC Aliases: ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide

hgnc_idHGNC:799

ensembl_gene_idENSG00000163399

coords_grch38chr1:116372668-116410261

coords_grch37chr1:116915290-116952883

entrez_id476

omim_gene182310

uniprot_idsP05023

refseq_accessionNM_001160233

mane_refseqNM_000701.8

mane_ensemblENST00000295598.10

External recordsHGNC:799OMIM 182310gnomADUniProt P05023ClinGenClinVar P/LPOrphanetMANE NM_000701.8GENESIS discovery

EvidenceClinGen Definitive Charcot-Marie-tooth disease, axonal, type 2DDPanelApp Green

ClinVar Variants

Pathogenic and likely pathogenic variants in ATP1A1, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

The Dorsal Root

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When Medicine Lost Its Compass

Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.

Error 404: Gene Not Found

CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.