Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein

Protein Expr Purif. 2021 Jul:183:105860. doi: 10.1016/j.pep.2021.105860. Epub 2021 Mar 6.

Abstract

The ATP-binding cassette sub-family B member 7 (ABCB7) is a membrane transport protein located on the inner membrane of mitochondria, which could be involved in the transport of heme from the mitochondria to the cytosol. ABCB7 also plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins, and mutations can cause a series of mitochondrial defects. X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13. Here, we report the expression, purification and the 2D projections derived from negatively stained electron micrographs of recombinant H. sapiens ABCB7 (hABCB7), paving the way from an atomic structure determination of ABCB7.

Keywords: 2D classification; ABCB7; Electron microscopy; Expression; Purification.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters* / biosynthesis
  • ATP-Binding Cassette Transporters* / chemistry
  • ATP-Binding Cassette Transporters* / genetics
  • ATP-Binding Cassette Transporters* / isolation & purification
  • Anemia, Sideroblastic / enzymology
  • Anemia, Sideroblastic / genetics
  • Genetic Diseases, X-Linked / enzymology
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Mutation*
  • Protein Conformation
  • Recombinant Proteins / biosynthesis
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / genetics
  • Recombinant Proteins / isolation & purification
  • Spinocerebellar Ataxias / enzymology
  • Spinocerebellar Ataxias / genetics

Substances

  • ABCB7 protein, human
  • ATP-Binding Cassette Transporters
  • Recombinant Proteins

Supplementary concepts

  • Anemia, sideroblastic spinocerebellar ataxia