Schleutker J, Haataja L, Renlund M, Puhakka L, Viitala J, Peltonen L, Aula P
Department of Medical Genetics, University of Turku, Finland.
Hum Genet. 1991 Nov;88(1):95-7. doi: 10.1007/BF00204936.
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).