Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: Immunoblotting and immunocytological study of two patients

Atsushi Imamura, Yasuyuki Suzuki, Xiang Qian Song, Toshiyuki Fukao, Atsushi Uchiyama, Nobuyuki Shimozawa, Keiju Kamijo, Takashi Hashimoto, Tadao Orii, Naomi Kondo

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Two novel missense mutations, 1939G to A (R518Q) and 2017A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). They are located in exon 6, which encodes part of the putative adenosine triphosphate binding domain of ALD protein. The ALD protein carrying the R518Q mutation was undetectable in fibroblasts, by immunoblot and immunofluorescence analysis, while the Q544R mutation had no apparent effect on the stability and localization of the ALD protein, but is expected to affect its function.

Original languageEnglish
Pages (from-to)322-325
Number of pages4
JournalClinical Genetics
Volume51
Issue number5
DOIs
Publication statusPublished - 1997

Keywords

  • ALD protein
  • Adenosine triphosphate binding cassette
  • Adrenoleukodystrophy
  • Missense mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Imamura, A., Suzuki, Y., Song, X. Q., Fukao, T., Uchiyama, A., Shimozawa, N., Kamijo, K., Hashimoto, T., Orii, T., & Kondo, N. (1997). Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: Immunoblotting and immunocytological study of two patients. Clinical Genetics, 51(5), 322-325. https://doi.org/10.1111/j.1399-0004.1997.tb02481.x