Membrane Associated Transporter Protein (MATP) Gene Mutations

Associated with OCA4

Map of MATP Gene Mutations Associated with OCA4

This figure shows the coding region of the MATP gene (530 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 (AF172849).

References on MATP gene structure:

Newton, J. M., Cohen-Barak, O., Hagiwara, N., Gardner, J. M., Davisson, M. T., King, R. A., Brilliant, M. H. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. American Journal of Human Genetics 69:981-988, 2001. [Link to article (PubMed)]

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Last changed November 14, 2001.