LRBA wt Allele

Preferred Label : LRBA wt Allele;

NCIt synonyms : LPS-Responsive Vesicle Trafficking, Beach and Anchor Containing Gene; CDC4L; LPS Responsive Beige-Like Anchor Protein wt Allele; Vesicle Trafficking, Beach and Anchor Containing Gene; LAB300; BGL; CVID8; Lipopolysaccharide-Responsive, Beige-Like Anchor Protein Gene; LBA;

NCIt definition : Human LRBA wild-type allele is located in the vicinity of 4q31.3 and is approximately 751 kb in length. This allele, which encodes lipopolysaccharide-responsive and beige-like anchor protein, is involved in immune effector molecule trafficking. Mutation of the gene is associated with common variable immunodeficiency-8 with autoimmunity (CVID8).;

NCI Metathesaurus CUI : CL1642428;

GenBank Accession Number : AF216648;

Details

Origin ID

C176546;

UMLS CUI

C5444058;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency, common variable, 8, with autoimmunity [OMIM Phenotype]
- LPS responsive beige-like anchor protein [ORDO Gene]
- Lipopolysaccharide-responsive, beige-like anchor protein [OMIM gene]
- bronchoalveolar lavage [MeSH Descriptor]
OMIM relation
- Lipopolysaccharide-responsive, beige-like anchor protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Immunologic Factor Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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