Tyrosinase Related Protein-1 Gene Mutations Associated with Oculocutaneous Albinism type 3

Map of Tyrosinase Related Protein-1 Gene Mutations Associated with OCA3

This figure shows the coding region of the tyrosinase related protein-1 gene (537 amino acids). Light blue is the signal peptide, green is the putative metal ion binding regions, orange is the transmembrane region. White circles are the location of cystein residues and the EGF is a epidermal growth factor-like region. Missense mutations are on the top and nonsense, frameshift and splice site mutations are on the bottom.

GenBank Accession for mRNA sequence (X51420).

GeneBank Accession for genomic sequence (AF001295).

References on gene structure:

Sturm, R. A., O'Sullivan, B. J., Box, N. F., Smith, A. G., Smit, S. E., Puttick, E. R. J., Parsons, P. G., Dunn, I. S. Chromosomal structure of the human TRP1 and TRP2 loci and comparison of the tyrosinase-related protein gene family. Genomics 29:24-34, 1995. [Link to article (PubMed)]

Cohen, T., Muller, R. M., Tomita, Y., Shibahara, S. Nucleotide sequence of the cDNA encoding human tyrosinase-related protein. Nucleic Acids Research 18:2807-2808, 1990. [Link to article (PubMed)]

Box, N.F., Wyeth, J.R., Mayne, C.J., O'Gorman, L.E., Martin, N.G., Sturm, R.A. Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. Mammalian Genome 9:50-3, 1998. [Link to article (PubMed)].


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Last changed July 14, 1999.