LZTFL1 wt Allele

Preferred Label : LZTFL1 wt Allele;

NCIt synonyms : Leucine Zipper Transcription Factor Like 1 wt Allele; BBS17; Leucine Zipper Transcription Factor-Like 1 Gene;

NCIt definition : Human LZTFL1 wild-type allele is located in the vicinity of 3p21.31 and is approximately 93 kb in length. This allele, which encodes leucine zipper transcription factor-like protein 1, is involved in the regulation of protein trafficking to the ciliary membrane. Nonsense mutations in this gene are associated with Bardet-Biedl syndrome 17.;

NCI Metathesaurus CUI : CL1794203;

GenBank Accession Number : AJ297351;

Details

Origin ID

C189212;

UMLS CUI

C5702579;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 17 [DO Concept]
OMIM relation
- Leucine zipper transcription factor-like 1 [OMIM gene]
See also inter- (CISMeF)
- Bardet-biedl syndrome 17 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Leucine zipper transcription factor-like 1 [OMIM gene]
- leucine zipper transcription factor like 1 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p21.31 [NCIt concept]
gene_plays_role_in_process
- Cell Motility [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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