KLHL6
Description
The KLHL6 (kelch like family member 6) is a protein-coding gene located on chromosome 3.
KLHL6 plays a role in the signaling pathways initiated by B-cell antigen receptors, a crucial aspect of the adaptive immune response. Additionally, it contributes to the development of germinal centers, specialized structures within lymph nodes where B cells undergo affinity maturation and class switching.
KLHL6 is also known as -.
Associated Diseases
- Okt4 epitope deficiency
- neutropenia, severe congenital, 2, autosomal dominant
- combined immunodeficiency with skin granulomas
- common variable immunodeficiency
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- transient myeloproliferative syndrome
- severe combined immunodeficiency due to IKK2 deficiency
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- 22q11.2 deletion syndrome
- immunodeficiency 105
- BENTA disease
- immunodeficiency 19
- combined immunodeficiency due to partial RAG1 deficiency
- immunodeficiency 18
- immunodeficiency 75
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant