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