HPS1 Gene Mutations Associated with Hermansky-Pudlak Syndrome type 1

Map of HPS Gene Mutations Associated with HPS

This figure shows both of the HPS gene transcripts that result from alternative splicing (black line). The light blue represents the common coding sequences for both transcripts. The light blue and dark blue represents the short transcipt (1.5 kb). The light blue and the red represents the large transcript (3.6 kb). Stripped regions represent the 3' untranslated region (UTR) of the transcipt. Missense mutations are on the top and nonsense, frameshift and splice site mutations are on the bottom.

GenBank Accession for short transcript (U96721)

GenBank Accession for long transcript (U65676)

References on gene structure:

Oh, J., Bailin, T., Fukai, K., Feng, G. H., Ho, L., Mao, J-I, Frenk, E., Tamura, N., Spritz, R. A. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genetics 14:300-306, 1996.

Wildenberu, S. C., Fryer, J. P., Gardner, J. M., Oetting, W. S., Mao, J-I, Brilliant, M. H., King, R. A. Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak Syndrome in Puerto Rico. Journal of Investigative Dermatology 110:777-781, 1998.

Back to the Albinism Database Homepage.

Last changed June 5, 1998.