ORAI1 wt Allele

Preferred Label : ORAI1 wt Allele;

NCIt synonyms : Transmembrane Protein 142A Gene; FLJ14466; ORAI Calcium Release-Activated Calcium Modulator 1 wt Allele; TMEM142A; ORAT1; Calcium Release-Activated Calcium Modulator 1 Gene; CRACM1;

NCIt definition : Human ORAI1 wild-type allele is located in the vicinity of 12q24.31 and is approximately 15 kb in length. This allele, which encodes calcium release-activated calcium channel protein 1, is involved in the modulation of both T-cell pathogen response and calcium influx. Mutation of the gene is associated with congenital severe combined immunodeficiency.;

GenBank Accession Number : AK027372;

Details

Origin ID

C88518;

UMLS CUI

C2982012;

OMIM relation
- Orai calcium release-activated calcium modulator 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Severe Combined Immunodeficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.31 [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Primary Immunodeficiency Pathway [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD4+ T Cells [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD8+ T Cells [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- T-Cell Differentiation [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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