Tyrosinase Gene Mutations Associated with Oculocutaneous Albinism type 1

Map of Tyrosinase Gene Mutations Associated with OCA1

This figure shows the coding region of the tyrosinase gene (529 amino acids). Light blue is the signal peptide, green is the copper 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 (M27160).

GenBank accession for genomic sequence (AH003020).

References on tyrosinase gene structure:

Kwon, B. S., Haq, A. K., Pomerantz, S. H., Halaban, R. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Proceedings of the National Academy of Sciences USA 84:7473-7477, 1987. [Link to article (PubMed)]

Giebel, L. B., Strunk, K. M., Spritz, R. A. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 9:435-445, 1991. [Link to article (PubMed)]

Ponnazhagan, S.; Hou, L.; Kwon, B. S. Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region. Journal of Investigative Dermatology 102:744-748, 1994. [Link to article (PubMed)]


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Last changed July 27, 2000.