TOR1AIP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TOR1AIP1 wild-type allele is located in the vicinity of 1q25.2 and is approximately 38 kb in length. This allele, which encodes torsin-1A-interacting protein 1, plays a role in the organization and maintenance of nuclear membranes. Mutation of the gene is associated with myopathy, autosomal recessive, with rigid spine and distal joint contractures (limb-girdle muscular dystrophy type 2Y).

**Synonyms:** - FLJ13142 - LAP1 - LAP1B - LAP1C - LGMD2Y - Lamina Associated Polypeptide 1B Gene - Lamina-Associated Polypeptide 1B Gene - Torsin 1A Interacting Protein 1 wt Allele - Torsin A Interacting Protein 1 Gene