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 o...

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Bibliographic Details
Published in:Human genetics 1991-11, Vol.88 (1), p.95-97
Main Authors: SCHLEUTKER, J, HAATAJA, L, RENLUND, M, PUHAKKA, L, VIITALA, J, PELTONEN, L, AULA, P
Format: Article
Language:English
Subjects:
Antigens, CD
Biological and medical sciences
Blotting, Southern
Chromosome Mapping
Chromosomes, Human, Pair 13
Errors of metabolism
Genetic Linkage
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Lysosomal Membrane Proteins
Lysosomal Storage Diseases - genetics
Lysosomes - metabolism
Medical sciences
Membrane Glycoproteins - genetics
Metabolic diseases
N-Acetylneuraminic Acid
Sialic Acids - metabolism
X Chromosome
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Summary: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).
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00204936