CLN3


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CLN3

A gene on chromosome 16p12.1 that encodes battenin, a protein involved in lysosomal function, which is defective in Batten-Spielmeyer-Vogt disease, a clinical form of neuronal ceroid lipofuscinosis.
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In both assays, normal activities were found in samples from patients with CLN3, as would be expected.
Isolation of a novel gene underlying Batten disease, CLN3.
Defective intracellular transport of CLN3 is the molecular basis of Batten disease.
CLN2 deficiencies can lead to late infantile as well as juvenile onset disease (2), CLN1 deficiencies to infantile as well as late infantile and juvenile onset disease (3), and CLN3 deficiencies to juvenile as well as delayed onset disease (4,5)].