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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References in periodicals archive ?
Defective intracellular transport of CLN3 is the molecular basis of Batten disease.
Batten disease: evaluation of CLN3 mutations on protein localization and function.
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)].