LMBR1L
Description
The LMBR1L (limb development membrane protein 1 like) is a protein-coding gene located on chromosome 12.
Protein LMBR1L is a protein that in humans is encoded by the LMBR1L gene.
LMBR1L plays a critical role in lymphocyte development by suppressing the canonical Wnt signaling pathway. It acts in conjunction with UBAC2 and the E3 ubiquitin-protein ligase AMFR to promote the ubiquitin-mediated degradation of CTNNB1 (beta-catenin) and the Wnt receptors FZD6 and LRP6. LMBR1L also stabilizes the beta-catenin destruction complex, which is essential for regulating CTNNB1 levels. Additionally, LMBR1L functions as a receptor for LCN1 (lipocalin-1) and mediates its endocytosis.
LMBR1L is also known as LIMR.
Associated Diseases
- severe combined immunodeficiency due to CARD11 deficiency
- common variable immunodeficiency
- isolated agammaglobulinemia
- immunodeficiency 18
- severe combined immunodeficiency due to CTPS1 deficiency
- classic Hodgkin lymphoma
- severe combined immunodeficiency due to IKK2 deficiency
- combined immunodeficiency with skin granulomas
- Wiskott-Aldrich syndrome
- immunodeficiency 105
- agammaglobulinemia 7, autosomal recessive
- short-limb skeletal dysplasia with severe combined immunodeficiency
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- combined immunodeficiency due to moesin deficiency
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency, common variable, 4
- immunodeficiency 72 with autoinflammation
