title: Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein.
abstract: The genomic sequence of the human CLN3 gene, which is defective in juvenile onset neuronal ceroid lipofuscinosis (Batten disease) is being delineated using a variety of methods. A Saccharomyces cerevisiae gene, YHC3 (for Yeast Homologue to human CLN3), which is highly similar to the human disease gene, has been identified by computer-aided homology searching. Topology predictions indicate the CLN3 protein contains six transmembrane segments. Most similarity between the human and yeast proteins lies either in the transmembrane segments or along one face of the predicted protein structure.
authors.affiliation: Department of Paediatrics, University College London Medical School, Rayne Institute, UK.
authors.forename: H M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: P E
authors.initials: PE
authors.lastname: Taschner
authors.forename: G
authors.initials: G
authors.lastname: Kremmidiotis
authors.forename: D F
authors.initials: DF
authors.lastname: Callen
authors.forename: N A
authors.initials: NA
authors.lastname: Doggett
authors.forename: T J
authors.initials: TJ
authors.lastname: Lerner
authors.forename: R B
authors.initials: RB
authors.lastname: Janes
authors.forename: B A
authors.initials: BA
authors.lastname: Wallace
authors.forename: P B
authors.initials: PB
authors.lastname: Munroe
authors.forename: A M
authors.initials: AM
authors.lastname: O'Rawe
authors.forename: R M
authors.initials: RM
authors.lastname: Gardiner
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
mesh_terms: D000293:Adolescent; D001483:Base Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D016213:Cyclins / Q000235:genetics*; D005656:Fungal Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics*; D012441:Saccharomyces cerevisiae / Q000235:genetics; D029701:Saccharomyces cerevisiae Proteins; D017421:Sequence Analysis; D012689:Sequence Homology, Nucleic Acid
chemical_list: C105199:CLN3 protein, human; D016213:Cyclins; D005656:Fungal Proteins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D029701:Saccharomyces cerevisiae Proteins; C489809:YHC3 protein, S cerevisiae