TBCD wt Allele

Preferred Label : TBCD wt Allele;

NCIt synonyms : SSD1; tfcD; PEBAT; Tubulin Folding Cofactor D wt Allele; KIAA0988; SSD-1;

NCIt definition : Human TBCD wild-type allele is located in the vicinity of 17q25.3 and is approximately 194 kb in length. This allele, which encodes tubulin-specific chaperone D protein, plays a role in microtubule dynamics. Mutations in the gene are associated with early-onset, progressive encephalopathy with brain atrophy and thin corpus callosum.;

GenBank Accession Number : BC003094;

Details

Origin ID

C213058;

OMIM relation
- Tubulin-specific chaperone D [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q25.3 [NCIt concept]
gene_plays_role_in_process
- Heat-Shock Response [NCIt concept]
- M Phase Process [NCIt concept]
- Microtubule Process [NCIt concept]
- Protein Folding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Tubulin Binding [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients