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 journalArticle

32 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 1 2006

Fingerprint

Membrane Transport Proteins
albino
transporters
Membrane Proteins
Membranes
Phenotype
mutation
phenotype
Mutation
Melanins
Genes
Proteins
genes
proteins
Amino Acids
Peptides
melanin
polypeptides
amino acids
synthesis

Keywords

  • OCA4
  • Six novel mutations
  • SLC45A2

ASJC Scopus subject areas

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

Cite this

Oculocutaneous albinism type 4 : Six novel mutations in the membrane-associated transporter protein gene and their phenotypes. / Inagaki, Katsuhiko; Suzuki, Tamio; Ito, Shiro; Suzuki, Noriyuki; Adachi, Koji; Okuyama, Torayuki; Nakata, Yusei; Shimizu, Hiroshi; Matsuura, Hironori; Oono, Takashi; Iwamatsu, Hiroko; Kono, Michihiro; Tomita, Yasushi.

In: Pigment Cell Research, Vol. 19, No. 5, 01.10.2006, p. 451-453.

Research output: Contribution to journalArticle

Inagaki, K, Suzuki, T, Ito, S, Suzuki, N, Adachi, K, Okuyama, T, Nakata, Y, Shimizu, H, Matsuura, H, Oono, T, Iwamatsu, H, Kono, M & Tomita, Y 2006, 'Oculocutaneous albinism type 4: Six novel mutations in the membrane-associated transporter protein gene and their phenotypes', Pigment Cell Research, vol. 19, no. 5, pp. 451-453. https://doi.org/10.1111/j.1600-0749.2006.00332.x
Inagaki, Katsuhiko ; Suzuki, Tamio ; Ito, Shiro ; Suzuki, Noriyuki ; Adachi, Koji ; Okuyama, Torayuki ; Nakata, Yusei ; Shimizu, Hiroshi ; Matsuura, Hironori ; Oono, Takashi ; Iwamatsu, Hiroko ; Kono, Michihiro ; Tomita, Yasushi. / Oculocutaneous albinism type 4 : Six novel mutations in the membrane-associated transporter protein gene and their phenotypes. In: Pigment Cell Research. 2006 ; Vol. 19, No. 5. pp. 451-453.
@article{d10c2ba3029a4e17aa620c0060e731c6,
title = "Oculocutaneous albinism type 4: Six novel mutations in the membrane-associated transporter protein gene and their phenotypes",
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.",
keywords = "OCA4, Six novel mutations, SLC45A2",
author = "Katsuhiko Inagaki and Tamio Suzuki and Shiro Ito and Noriyuki Suzuki and Koji Adachi and Torayuki Okuyama and Yusei Nakata and Hiroshi Shimizu and Hironori Matsuura and Takashi Oono and Hiroko Iwamatsu and Michihiro Kono and Yasushi Tomita",
year = "2006",
month = "10",
day = "1",
doi = "10.1111/j.1600-0749.2006.00332.x",
language = "English",
volume = "19",
pages = "451--453",
journal = "Pigment Cell and Melanoma Research",
issn = "1755-1471",
publisher = "Wiley-Blackwell",
number = "5",

}

TY - JOUR

T1 - Oculocutaneous albinism type 4

T2 - Six novel mutations in the membrane-associated transporter protein gene and their phenotypes

AU - Inagaki, Katsuhiko

AU - Suzuki, Tamio

AU - Ito, Shiro

AU - Suzuki, Noriyuki

AU - Adachi, Koji

AU - Okuyama, Torayuki

AU - Nakata, Yusei

AU - Shimizu, Hiroshi

AU - Matsuura, Hironori

AU - Oono, Takashi

AU - Iwamatsu, Hiroko

AU - Kono, Michihiro

AU - Tomita, Yasushi

PY - 2006/10/1

Y1 - 2006/10/1

N2 - 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.

AB - 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.

KW - OCA4

KW - Six novel mutations

KW - SLC45A2

UR - http://www.scopus.com/inward/record.url?scp=33748295553&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748295553&partnerID=8YFLogxK

U2 - 10.1111/j.1600-0749.2006.00332.x

DO - 10.1111/j.1600-0749.2006.00332.x

M3 - Article

VL - 19

SP - 451

EP - 453

JO - Pigment Cell and Melanoma Research

JF - Pigment Cell and Melanoma Research

SN - 1755-1471

IS - 5

ER -