title: Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.
abstract: Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows that lamp genes are not involved in Salla disease. The lamp genes were localized, using Southern hybridization in hamster--human hybrid cell panels, to chromosomes 13 (lamp A) and X (lamp B).
authors.affiliation: Department of Medical Genetics, University of Turku, Finland.
authors.forename: J
authors.initials: J
authors.lastname: Schleutker
authors.forename: L
authors.initials: L
authors.lastname: Haataja
authors.forename: M
authors.initials: M
authors.lastname: Renlund
authors.forename: L
authors.initials: L
authors.lastname: Puhakka
authors.forename: J
authors.initials: J
authors.lastname: Viitala
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
authors.forename: P
authors.initials: P
authors.lastname: Aula
mesh_terms: D015703:Antigens, CD; D015139:Blotting, Southern; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D008040:Genetic Linkage; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000235:genetics*; D051907:Lysosomal Membrane Proteins; D008247:Lysosomes / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000235:genetics*; D019158:N-Acetylneuraminic Acid; D012794:Sialic Acids / Q000378:metabolism; D014960:X Chromosome
chemical_list: D015703:Antigens, CD; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins; D012794:Sialic Acids; D019158:N-Acetylneuraminic Acid