Genomic clones of the human GM2 activator protein have been isolated and an
alyzed. The 5 ' region of the gene demonstrated promoter activity as ascert
ained by its ability to drive luciferase gene expression in transfected COS
cells. This sequence contains GC rich region and several putative promoter
elements were present, including Spl, AP2, cAMP-responsive element, and B-
cell-specific activating protein. Analysis of tissue distribution of the GM
2 activator protein gene revealed tissue-specific variations in transcript
levels. Placenta, bone marrow, mammary gland, bladder, lymph node, and sple
en had the highest mRNA levels.