Tracking down rare hereditary diseases

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Dynamic structure of FLVCR proteins and their function in nutrient transport in our cells revealed

FLVCR proteins (green, blue) sitting in the cellular membrane (purple). These pr
FLVCR proteins (green, blue) sitting in the cellular membrane (purple). These proteins transport the cellular building blocks ethanolamine and choline across the membrane. Ella Maru Studio

It is known that malfunctions of the proteins FLVCR1 and FLVCR2 lead to rare hereditary diseases in humans that cause motor, sensory and neurological disorders. However, the biochemical mechanisms behind this and the physiological functions of the FLVCR proteins have been unclear to date. An interdisciplinary team of researchers from Frankfurt am Main, Singapore and the USA has now deciphered the FLVCR proteins- 3D structures and their cellular functions. The researchers have shown that the proteins transport the cellular building blocks choline and ethanolamine. ...

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