TOR1AIP1 wt Allele

Preferred Label : TOR1AIP1 wt Allele;

NCIt synonyms : LAP1B; LAP1C; Torsin 1A Interacting Protein 1 wt Allele; Torsin A Interacting Protein 1 Gene; LAP1; Lamina-Associated Polypeptide 1B Gene; LGMD2Y; FLJ13142; Lamina Associated Polypeptide 1B Gene;

NCIt 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).;

GenBank Accession Number : NM_015602;

Détails

Origin ID

C213101;

OMIM relation
- Torsin 1a-interacting protein 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q25.2 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

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