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SPG3A

Chr 14AD

spastic paraplegia 3A (autosomal dominant)

Also known as: AD-FSP, FSP1, SPG3

NCBI Gene: 6681 UniProt: Q8WXF7 OMIM: 182600

Atlastin-1 is a membrane-anchored GTPase that mediates GTP-dependent fusion of endoplasmic reticulum membranes, maintaining the continuous ER network and facilitating formation of three-way junctions where ER tubules intersect. Mutations cause spastic paraplegia 3A, an autosomal dominant hereditary spastic paraplegia that represents one of the most common early-onset forms of this condition. This gene has a GeneReviews entry, indicating established clinical guidelines are available for management.

GeneReviews OMIM ResearchSummary from OMIM, UniProt

GeneReviews OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— SPG3A

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Clinical Trials

2 active or recruiting trials — potential therapeutic options may be available

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GeneReview available — SPG3A

Authoritative clinical overview · Recommended first read

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