Complement C1q tumor necrosis factor-related protein 5 (C1QTNF5)

Complement C1q tumor necrosis factor-related protein 5 (C1QTNF5) is a member of the C1q/tumor necrosis factor (TNF) superfamily that is strongly expressed in retinal pigment epithelium cells. The protein contains a signal peptide, a collagen domain, and a globular C1q-like domain, and it forms both trimeric and higher-order multimeric structures. C1QTNF5 is essential for maintaining retinal structure and function; mutations (notably S163R and others) cause autosomal dominant late-onset retinal degeneration (L-ORD), a disorder characterized by progressive loss of night vision and retinal degeneration appearing in middle age. C1QTNF5 is secreted and may be attached to membranes, playing a role in cell adhesion and interactions within the retinal extracellular matrix. Some functions of C1QTNF5 remain incompletely understood; in mouse, it also regulates adipose tissue browning and autophagy. At present, C1QTNF5 is not established as a direct therapeutic target or receptor, and there are no known drugs that target it directly.

Other names

C1q and TNF related 5CTRP5complement-c1q tumor necrosis factor-related protein 5C1q TNF-alpha-related protein 5C1q and tumor necrosis factor related protein 5myonectinUNQ303/PRO344DKFZp586B0621LORDmembrane frizzled-related proteinMFRP (though MFRP refers primarily to a separate but co-transcribed gene/protein)