IGLL1
Function
Critical for B-cell development.
Involvement in disease
Agammaglobulinemia 2, autosomal recessive
AGM2
A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed only in pre-B-cells and a special B-cell line (which is surface Ig negative).
Cellular localization
- Endoplasmic reticulum
- Secreted
- In pre-B cells, localizes predominantly to the endoplasmic reticulum.
Alternative names
CD179b, IGL1, IGLL1, Immunoglobulin lambda-like polypeptide 1, CD179 antigen-like family member B, Ig lambda-5, Immunoglobulin omega polypeptide, Immunoglobulin-related protein 14.1