Oculocutaneous albinism type 4: Six novel mutations in the membrane-associated transporter protein gene and their phenotypes

Katsuhiko Inagaki, Tamio Suzuki, Shiro Ito, Noriyuki Suzuki, Koji Adachi, Torayuki Okuyama, Yusei Nakata, Hiroshi Shimizu, Hironori Matsuura, Takashi Oono, Hiroko Iwamatsu, Michihiro Kono, Yasushi Tomita

Research output: Contribution to journalArticlepeer-review

34 Citations (Scopus)

Abstract

Oculocutaneous albinism type 4 (OCA4) is an autosomal recessive hypopigmentary disorder caused by mutations in the Membrane-Associated Transporter Protein gene (SLC45A2). The SLC45A2 protein is a 530-amino-acid polypeptide that contains 12 putative transmembrane domains, and appears to be a transporter that mediates melanin synthesis. Eighteen pathological mutations have been reported so far. In this study, six novel mutations, p.Y49C (c.146A > G), p.G89R (c.265G > A), p.C229Y (c.686G > A), p.T437A (c.1309A > G), p.T440A (c.1318A > G) and p.G473D (c.1418G > A) were found in eight Japanese patients with various clinical phenotypes. The phenotypes of OCA4 were as various as the other types of OCA and probably depended on the mutation sites in the SLC45A2 gene.

Original languageEnglish
Pages (from-to)451-453
Number of pages3
JournalPigment Cell Research
Volume19
Issue number5
DOIs
Publication statusPublished - Oct 2006

Keywords

  • OCA4
  • SLC45A2
  • Six novel mutations

ASJC Scopus subject areas

  • Agronomy and Crop Science
  • Plant Science
  • Developmental Biology
  • Clinical Biochemistry
  • Cell Biology

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