P Gene Mutations Associated with Oculocutaneous Albinism type 2

Map of P Gene Mutations Associated with OCA2

This figure shows the coding region of the P gene (838 amino acids). The red is the coding region and the yellow boxes are the putative transmembrane regions. Missense mutations are on the top and nonsense, frameshift and splice site mutations are on the bottom.

GenBank Accession for mRNA sequence (M99564).

References on P gene structure:

Gardner, J. M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M. F., King, R. A., Brilliant, M. H. The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman Syndromes. Science 257: 1121-1124, 1992. [Link to article (PubMed)]

Rinchik E. M., Bultman, S. J., Horsthemke, B., Lee, S-T., Strunk, K. M., Spritz, R. A., Avidano, K. M., Jong, M. T. C., Nicholls. R. D. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-76, 1993. [Link to article (PubMed)]

Lee, S-T., Nicholls. R. D., Jong, M. T. C., Fukai, K., Spritz, R. A. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354-363, 1995. [Link to article (PubMed)]

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Last changed August 2, 2000.