CALB1

CALB1

A gene on chromosome 8q21.3-q22.1 that encodes calbindin-D28K, a calcium-binding protein of the troponin C superfamily, which contains 4 active calcium-binding domains. Calbindin buffers cytosolic calcium and stimulates membrane Ca2+-ATPase and a 3',5'-cyclic nucleotide phosphodiesterase; it is synthesised in the brain independent of vitamin D.
Molecular pathology
Cerebral neurones in Huntington disease are
calbindin-D28K depleted.