Eml 2, also known as echinodermal microtubule-associated protein-like 2, is a protein that in humans is encoded by the EMILIN2 gene. Eml 2 is a member of the EMILIN family of proteins which are extracellular matrix proteins involved in cell adhesion and tissue repair. The function of Eml 2 is not fully understood but it has been shown to be important for the development and maintenance of the central nervous system (CNS). Mutations in the EMILIN2 gene have been associated with an increased risk of developing certain neurological disorders such as Alzheimer’s disease, Parkinson’s disease and schizophrenia.
The EMILIN2 gene is located on chromosome 12 in a region known as the major histocompatibility complex class I region (MHCI). MHCI genes are important for the immune system and play a role in antigen presentation. The EMILIN2 gene encodes a protein that is thought to be involved in cell adhesion and tissue repair. The precise function of this protein is not fully understood but it contains several domains that are found in other proteins involved in cell adhesion, including integrins and cadherins.
Mutations in the EMILIN2 gene have been associated with an increased risk of developing certain neurological disorders such as Alzheimer’s disease, Parkinson’s disease and schizophrenia. These diseases are all characterised by abnormal deposits of proteins in the brain. It is thought that mutations in EMILIN2 may lead to changes in brain structure or function that make these diseases more likely to develop. However, further research is needed to confirm this link between EMILIN2 mutations and these neurological disorders.