Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.
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).
Schleutker
J
J
Department of Medical Genetics, University of Turku, Finland.
Haataja
L
L
Renlund
M
M
Puhakka
L
L
Viitala
J
J
Peltonen
L
L
Aula
P
P
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
D015703:Antigens, CD; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins; D012794:Sialic Acids; D019158:N-Acetylneuraminic Acid