TOR1ADYT1

TOR1ADYT1 is not a standard symbol in mainstream genetic nomenclature. In diverse datasets or publications, it can appear as a composite label that suggests a link between the TOR1A gene and DYT1 dystonia. Because it is not an established, universally adopted identifier, its exact meaning can vary by source.

TOR1A, also known as torsin-1A, encodes an ATPase of the AAA+ family located in the endoplasmic reticulum. It is expressed in neurons and is thought to influence protein folding and trafficking. Pathogenic variants in TOR1A cause DYT1 dystonia, a childhood-onset movement disorder characterized by sustained muscle contractions and abnormal postures. The most common pathogenic mutation is a three-base-pair deletion in exon 5, resulting in the loss of a single glutamic acid in torsin-1A. The precise pathogenic mechanism is still under investigation, but it is linked to disruptions in neural circuits that regulate movement.

As a label, TOR1ADYT1 may denote a dataset entry, a functional association, or a hypothetical transcript or variant described in connection with dystonia research. It is not recognized as a separate gene, transcript, or protein within standard nomenclature. When encountered in literature or data tables, the term should be interpreted with caution and cross‑referenced against authoritative resources.

If you encounter TOR1ADYT1, consult established sources such as HGNC, NCBI Gene, Ensembl, andOMIM to confirm whether the term refers to TOR1A, to a DYT1-related annotation, or to a composite dataset label, and review the accompanying metadata for context.