An inventory of the human ABC proteins

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480 Citations (Scopus)

Abstract

Currently 30 human ABC proteins are represented by full sequences in various databases, and this paper provides a brief overview of these proteins. ABC proteins are composed of transmembrane domains (TMDs), and nucleotide binding domains (NBDs, or ATP-binding cassettes, ABSs). The arrangement of these domains, together with available membrane topology models of the family members, are presented. Based on their sequence similarity scores, the members of the human ABC protein family can be grouped into eight subfamilies. At present the MDR/TAP, the ALD, the MRP/CFTR, the ABC1, the White, the RNAseL inhibitor, the ANSA, and the GCN20 subfamilies are identified. Mutations of many human ABC proteins are known to be causative in inherited diseases, and a short description of the molecular pathology of these ABC gene-related genetic diseases is also provided.

Original languageEnglish
Pages (from-to)237-262
Number of pages26
JournalBiochimica et Biophysica Acta - Biomembranes
Volume1461
Issue number2
DOIs
Publication statusPublished - Dec 6 1999

Keywords

  • ABC subfamily
  • ABC-related genetic disease
  • Domain arrangement
  • Membrane topology

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Cell Biology

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