Atlastin: Difference between revisions
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<StructureSection load='4ido' size=' | <StructureSection load='4ido' size='350' side='right' caption='Structure of human atlastin cytoplasmic domain complex with GDP and AlF4 (PDB code [[4ido]]).' scene='59/590828/Cv/7'> | ||
== Function == | == Function == | ||
'''Atlastin''' (ATN) is a GTPase and a Golgi body transmembrane protein. ATN was shown to be required in membrane fusion and ER formation in ''Drosophila melanogaster''. | '''Atlastin''' (ATN) is a GTPase and a Golgi body transmembrane protein. ATN was shown to be required in membrane fusion and ER formation in ''Drosophila melanogaster''.<ref name="Ad">PMID:23334294</ref> | ||
== Disease == | == Disease == | ||
Defects in the ATN gene are a cause of spastic paraplegia type 3. | Defects in the ATN gene are a cause of the degenerative spinal cord disorder spastic paraplegia type 3 and of hereditary sensory neuropathy type 1D. Mutations in ATL-3 affect multiple ER-related pathways<ref>PMID:30666337</ref>. | ||
== Structural highlights == | == Structural highlights == | ||
*<scene name='59/590828/Cv/6'>GDP/AlF4 binding site</scene> from human atlastin (PDB code [[4ido]]).<ref name="Ad">PMID:23334294</ref> Water molecules shown as red spheres. | |||
==3D structures of atlastin== | ==3D structures of atlastin== | ||
[[Atlastin 3D structures]] | |||
</StructureSection> | |||
== References == | == References == | ||
<references/> | <references/> | ||
[[Category: Topic Page]] | [[Category: Topic Page]] | ||
Latest revision as of 08:46, 25 March 2019
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