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Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease

โœ Scribed by Johanna Schleutker; Leena Haataja; Martin Renlund; Lea Puhakka; Juha Viitala; Leena Peltonen; Pertti Aula

Publisher
Springer
Year
1991
Tongue
English
Weight
458 KB
Volume
88
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

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).

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