rs769581129

This variant is located in the ATL1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

Hereditary spastic paraplegia 3A; Inborn genetic diseases

About ATL1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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