EMP3
Description
The EMP3 (epithelial membrane protein 3 (MAM blood group)) is a protein-coding gene located on chromosome 19.
Epithelial membrane protein 3 (EMP3) is a transmembrane signaling molecule encoded by the myelin-related gene EMP3. It belongs to the peripheral myelin protein gene family 22-kDa (PMP22), primarily responsible for forming the compact myelin sheath. While its exact functions and mechanisms are still being explored, EMP3 is potentially epigenetically linked to certain carcinomas. EMP3 is a 163-amino acid protein encoded by a gene located on chromosome 19q13.3 in humans. It is most highly expressed in peripheral blood leukocytes. The protein features four transmembrane domains and two N-linked glycosylation sites in its first extracellular loop. EMP3 plays a role in cell-to-cell interaction and cell proliferation. Overexpression and silencing of EMP3 disrupt its normal gene expression, leading to cancer progression and development. These characteristics suggest a tumor-suppressor-like role for EMP3 in regulating cell differentiation, apoptosis, and cancer cell development. However, further investigation is needed to fully understand its mechanisms.
EMP3 is also known as YMP.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- alpha thalassemia-intellectual disability syndrome type 1
- alpha-thalassemia-myelodysplastic syndrome
- delta-beta-thalassemia
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin D disease
- hemoglobin C-beta-thalassemia syndrome
- glioblastoma
- hemolytic anemia due to adenylate kinase deficiency
- Heinz body anemia
- dominant beta-thalassemia
