IGLL1 wt Allele

Preferred Label : IGLL1 wt Allele;

NCIt synonyms : IGO; Immunoglobulin Lambda-Like Polypeptide 1 Gene; IGL5, Mouse, Homolog of Gene; IGLJ14.1; Lambda-5, Mouse, Homolog of Gene; IGL1; IGL5; CD179b; VPREB2; IGLL; 14.1; IGVPB; AGM2; Immunoglobulin Lambda Like Polypeptide 1 wt Allele;

NCIt definition : Human IGLL1 wild-type allele is located in the vicinity of 22q11.23 and is approximately 7 kb in length. This allele, which encodes immunoglobulin lambda-like polypeptide 1 protein, is involved in the development and function of B-cells. Mutation of the gene is associated with agammaglobulinemia 2.;

GenBank Accession Number : X52204;

Details

Origin ID

C118231;

UMLS CUI

C3889253;

Automatic exact mappings (from CISMeF team)
- Agammaglobulinemia 2, autosomal recessive [OMIM Phenotype]
- IgO [MeSH Supplementary Concept]
- IgO [MeSH concept]
- Immunoglobulin lambda-like polypeptide 1 [OMIM gene]
- Pre-b-lymphocyte gene 1 [OMIM gene]
- immunoglobulin lambda like polypeptide 1 [ORDO Gene]
OMIM relation
- Immunoglobulin lambda-like polypeptide 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q11.23 [NCIt concept]
gene_is_element_in_pathway
- Primary Immunodeficiency Pathway [NCIt concept]
gene_plays_role_in_process
- B-Cell Activation [NCIt concept]
- B-Cell Differentiation [NCIt concept]
- Immune System Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients