Article
Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.
Neurogenetics - 1 Apr 2016
Jensen Nina, Autzen Jacob Kwasi, Pedersen Lene
Abstract excerpt
Mutations in the SLC20A2-gene encoding the inorganic phosphate (Pi) transporter PiT2 can explain approximately 40% of the familial cases of the rare neurodegenerative disorder primary familial brain calcification (Fahr's disease). The disease characteristic, cerebrovascular-associated calcifications, is also present in Slc20a2-knockout (KO) mice. Little is known about the specific role(s) of PiT2 in the brain....
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