RCAN1 wt Allele

Preferred Label : RCAN1 wt Allele;

NCIt synonyms : DSCR1; Down Syndrome Critical Region Gene 1 Gene; Regulator of Calcineurin 1 wt Allele; CSP1; MCIP1; RCN1; DSC1; ADAPT78;

NCIt definition : Human RCAN1 wild-type allele is located in the vicinity of 21q22.12 and is approximately 99 kb in length. This allele, which encodes calcipressin-1 protein, plays a role in the regulation protein phosphorylation. Aberrant expression of the gene is associated with Down Syndrome.;

GenBank Accession Number : NM_203418;

Détails

Origin ID

C82945;

UMLS CUI

C2826583;

OMIM relation
- Regulator of calcineurin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Down Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Calcineurin-Dependent NFAT Signaling Pathway in Lymphocytes [NCIt concept]
- Calcium Signaling in the CD4+ TCR Pathway [NCIt concept]
gene_plays_role_in_process
- Protein Phosphorylation Inhibition [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

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

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