PROM1

Description

The PROM1 (prominin 1) is a protein-coding gene located on chromosome 4.

CD133, also known as prominin-1, is a glycoprotein encoded by the PROM1 gene. It is a member of the pentaspan transmembrane glycoprotein family, specifically localized to cellular protrusions. The N-terminus of prominin-1 is extracellular, while the C-terminus resides intracellularly. While its precise function remains unknown, it is hypothesized to organize cell membrane topology. CD133 is expressed in various cell types, including hematopoietic stem cells, endothelial progenitor cells, glioblastoma, neuronal and glial stem cells, various pediatric brain tumors, and adult kidney, mammary glands, trachea, salivary glands, uterus, placenta, digestive tract, testes. It is commonly used to isolate cancer stem cells from different tumors, particularly gliomas and carcinomas. However, isolating pure cancer stem cell populations remains challenging. CD133+ melanoma cells are considered a subpopulation of cancer stem cells and play a crucial role in tumor recurrence.

PROM1, encoding CD133, may influence cell differentiation, proliferation, and apoptosis. It binds cholesterol in plasma membrane microdomains, potentially contributing to apical membrane organization in epithelial cells. During early retinal development, it acts as a key regulator of disk morphogenesis. PROM1 is involved in the regulation of MAPK and Akt signaling pathways. In neuroblastoma cells, it suppresses cell differentiation, such as neurite outgrowth, in a RET-dependent manner.

PROM1 is also known as AC133, CD133, CORD12, MCDR2, MSTP061, PROML1, RP41, STGD4.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing