Two Novel Missense Mutations in the ATP-binding Domain of the Adrenoleukodystrophy Gene: Immunoblotting and Immunocytological Study of Two Patients

Clin Genet. 1997 May;51(5):322-5. doi: 10.1111/j.1399-0004.1997.tb02481.x.

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.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / chemistry
  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • Adenosine Triphosphate / metabolism*
  • Adrenoleukodystrophy / genetics*
  • Animals
  • Binding Sites
  • Exons
  • Fluorescent Antibody Technique, Indirect
  • HeLa Cells
  • Humans
  • Immunoblotting
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mutation
  • Nucleic Acid Heteroduplexes

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Membrane Proteins
  • Nucleic Acid Heteroduplexes
  • Adenosine Triphosphate