ATL1

Chr 14AD

atlastin GTPase 1

Also known as: AD-FSP, ATL-1, FSP1, HSN1D, SPG3, SPG3A, atlastin1

NCBI Gene: 51062 ENSG00000198513 UniProt: Q8WXF7 OMIM: 606439

The protein is a GTPase that localizes to endoplasmic reticulum and Golgi membranes and functions in axonal maintenance. Mutations cause autosomal dominant spastic paraplegia type 3A and hereditary sensory neuropathy type ID. The mechanism involves loss of function, as indicated by the high intolerance to loss-of-function variants (pLI 0.98, LOEUF 0.31).

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neuropathy, hereditary sensory, type IDMIM #613708

Spastic paraplegia 3A, autosomal dominantMIM #182600

Clinical highlights

Gene-disease validity (ClinGen)

neuropathy, hereditary sensory, type 1D · ADDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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GeneReview available — ATL1