C1QTNF5
Description
The C1QTNF5 (C1q and TNF related 5) is a protein-coding gene located on chromosome 11.
C1QTNF5, also known as C1q and tumor necrosis factor related protein 5, is a protein encoded by the C1QTNF5 gene. This gene is associated with late-onset retinal degeneration (L-ORD). C1QTNF5 is a secreted and membrane-linked protein that is strongly expressed in retinal pigment epithelium cells. It belongs to the C1q/tumor necrosis factor superfamily, known for diverse functions including cell adhesion and as components of the basement membrane. A mutation in the C1QTNF5 gene, specifically a single missense mutation (S163R) in the encoded C1QTNF5 protein, causes L-ORD. L-ORD is a genetic disorder affecting the retina, the light-sensitive layer at the back of the eye. This mutation leads to poor vision in dim light, eventually progressing to night blindness (nyctalopia). The S163R mutation is located in the globular C1q domain, which is responsible for binding to ligands throughout the body to boost immune responses. The C1q protein can differentiate between various types of potential bacteria and virus ligands that can bind to the C1q domain.
C1QTNF5 is also known as CTRP5, MFRP.
