ZIC3 wt Allele

Preferred Label : ZIC3 wt Allele;

NCIt synonyms : HTX1; ZIC3; HTX; ZNF203; Zic Family Member 3 Heterotaxy 1 (Odd-Paired Homolog, Drosophila) wt Allele;

NCIt definition : Human ZIC3 wild-type allele is located in the vicinity of Xq26.2 and is approximately 11 kb in length. This allele, which encodes zinc finger protein ZIC 3, plays roles in transcription, cardiac and neural development and left-right specification. Mutations are associated with X-linked heterotaxy.;

NCIt note : Screening of a cohort of patients with sporadic heterotaxy indicated that ZIC3 mutations account for approximately 1% of affected individuals.;

GenBank Accession Number : AF028706;

Détails

Origin ID

C75543;

UMLS CUI

C2700301;

OMIM relation
- Zic family, member 3 [OMIM gene]
See also inter- (CISMeF)
- Heterotaxy, visceral, 1, X-linked [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq26.2 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Maturation [NCIt concept]
- Transcription [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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