MADCAM1
Description
The MADCAM1 (mucosal vascular addressin cell adhesion molecule 1) is a protein-coding gene located on chromosome 19.
Mucosal vascular addressin cell adhesion molecule 1 (MAdCAM-1) is a protein that in humans is encoded by the MADCAM1 gene. The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4 / beta7), L-selectin, and VLA-4 (alpha4 / beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin superfamily and is similar to ICAM-1 and VCAM-1.
Addressin is a lesser-used term to describe the group of adhesion molecules that are involved with lymphocyte homing, commonly found at high-endothelial venules (HEVs) where lymphocytes exit the blood and enter the lymph node. Addressins are the ligands to the homing receptors of lymphocytes. The task of these ligands and their receptors is to determine which tissue the lymphocyte will enter next. They carry carbohydrates in order to be recognized by L-selectin. Addressins physically bind to mobile lymphocytes to guide them to the HEVs. Examples of molecules that are often referred to as addressins are CD34 and GlyCAM-1 on HEVs in peripheral lymph nodes, and MAdCAM-1 on endothelial cells in the intestine.
In terms of migration, MAdCAM-1 is selectively expressed on mucosal endothelial cells, driving memory T-cell re-circulation through mucosal tissues.
MAdCAM-1, a cell adhesion receptor expressed by mucosal venules, plays a critical role in directing lymphocyte traffic into mucosal tissues, including the Peyer‘s patches and the intestinal lamina propria. It binds both integrin alpha-4/beta-7 and L-selectin, thereby regulating both the passage and retention of leukocytes. Isoform 2, lacking the mucin-like domain, may be specialized in enhancing integrin alpha-4/beta-7-dependent adhesion, independent of L-selectin binding.
MADCAM1 is also known as MACAM1.
Associated Diseases
- type 1 diabetes mellitus
- common variable immunodeficiency
- isolated agammaglobulinemia
- BENTA disease
- combined immunodeficiency with skin granulomas
- hyper-IgM syndrome type 3
- immunodeficiency 105
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency 18
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency, common variable, 14
- immunodeficiency 62
- agammaglobulinemia 10, autosomal dominant
- severe combined immunodeficiency due to CARD11 deficiency
- immunodeficiency 72 with autoinflammation
- short-limb skeletal dysplasia with severe combined immunodeficiency
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- reticular dysgenesis
