TCTN1 wt Allele

Preferred Label : TCTN1 wt Allele;

NCIt synonyms : JBTS13; FLJ21127; TECT1; Tectonic Family Member 1 wt Allele; UNQ9369/PRO34160; Tectonic Family, Member 1 Gene; Tectonic 1 Gene; Tectonic Gene;

NCIt definition : Human TCTN1 wild-type allele is located in the vicinity of 12q24.11 and is approximately 35 kb in length. This allele, which encodes tectonic-1 protein, is involved in the modulation of hedgehog signal transduction. A mutation in the gene is associated with Joubert syndrome.;

GenBank Accession Number : AK055891;

Details

Origin ID

C99627;

UMLS CUI

C3274834;

OMIM relation
- Tectonic family, member 1 [OMIM gene]
See also inter- (CISMeF)
- Joubert syndrome 13 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.11 [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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