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

Hum Genet. 1991 Nov;88(1):95-7. doi: 10.1007/BF00204936.

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).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD*
  • Blotting, Southern
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13*
  • Genetic Linkage
  • Humans
  • Lysosomal Membrane Proteins
  • Lysosomal Storage Diseases / genetics*
  • Lysosomes / metabolism
  • Membrane Glycoproteins / genetics*
  • N-Acetylneuraminic Acid
  • Sialic Acids / metabolism
  • X Chromosome*

Substances

  • Antigens, CD
  • Lysosomal Membrane Proteins
  • Membrane Glycoproteins
  • Sialic Acids
  • N-Acetylneuraminic Acid