This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. TOR1AIP1 (Torsin 1A Interacting Protein 1) is a Protein Coding gene. Diseases associated with TOR1AIP1 include Muscular Dystrophy, Limb-Girdle, Type 2E. GO annotations related to this gene include cytoskeletal protein binding and ATPase activator activity. An important paralog of this gene is TOR1AIP2.
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.
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