Member database | Pfam |
Pfam type | family |
Short name | CLN3 |
Clan | MFS |
Author | Mian N;0000-0003-4284-4749 Bateman A;0000-0002-6982-4660 |
Sequence Ontology | 0100021 |
Description
References
1.btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. Gachet Y, Codlin S, Hyams JS, Mole SE. J Cell Sci 118, 5525-36, (2005). PMID: 16291725
2.Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. Uusi-Rauva K, Kyttala A, van der Kant R, Vesa J, Tanhuanpaa K, Neefjes J, Olkkonen VM, Jalanko A. Cell Mol Life Sci 69, 2075-89, (2012). PMID: 22261744
3.Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. Zhong N, Wisniewski KE, Kaczmarski AL, Ju W, Xu WM, Xu WW, Mclendon L, Liu B, Kaczmarski W, Sklower Brooks SS, Brown WT. Hum. Genet. 102, 57-62, (1998). View articlePMID: 9490299